A Balancing Act

March 1, 2015UncategorizedBlogAdmin

Emily shows her best POTS balancing act. — Balancing school, social activities, and POTS is tricky!

There’s a reason no one says that living with a chronic illness is easy: because it isn’t. Living with Postural Orthostatic Tachycardia Syndrome (POTS), a form of dysautonomia, can be especially challenging at times. However, there are ways, with practice, to manage life with dysautonomia and find your own version of normal

One of the most important things for me has been to realize is that no one is perfect. There will be good days, and there will be bad days. I have had bad days that felt as if they would never end. On some bad days, I get angry and upset. I want to be able to do things my peers are doing, but the fact of the matter is that I can’t always do that. I think it’s important to allow yourself small increments of time every now and again to get upset in order to release pent-up emotions. I think it’s just as important not to dwell on those bad days, though, because, in the long-run, just being frustrated doesn’t fix anything.

So, I’m not like most of my peers. This is a fact that I’ve learned to accept. In order to keep myself from spending too much time comparing myself to others, I focus on things I like and things I can do. As a college student, I spend a good amount of time on my studies, which is something pretty normal for any student, and I enjoy that sense of normalcy. Anchoring myself in school work definitely helps me. I do my best not to isolate myself from others. I have a single dorm room, which really helps me manage my POTS since I’m able to sleep and rest when needed. While it’s sometimes tempting to stay in my room by myself constantly, I push myself to talk and interact with friends, and in the end, even if doing these things leaves me tired, I find that it also leaves me feeling better emotionally.

I would be wrong to say that I’m able to forget about my POTS entirely. Since I can’t ignore the fact that I have POTS, as that would make it far worse, I do my best to manage it. I take my medications, drink lots of fluids, increase my salt intake and exercise to keep my POTS under control (as under control as possible). With some reluctance, I use a shower chair, so I can sit down while showering, and also use a cane on days where I’m feeling especially off-balance. The reluctance is because I feel too young to need these things. I quickly realized, though, that these are tools to help me, and if there’s something that can help me, then I should take advantage of it. There is no shame in helping myself and making living with my illness easier.

Humor is something else that helps me stay positive. The reality of living with a chronic illness that few doctors know of is scary sometimes. Having a doctor say he or she doesn’t know what to do is terrifying because I thought from a young age that doctors were the people who would make me better if I was sick. There is no magic cure for me or the millions of other people living with POTS. Although I realize this, I still try to find humor in small things, like seeing ads for compression stockings online geared toward seniors and saying, “I would totally wear those,” or joking that I have a great sense of balance, when in reality sometimes I feel like I’m in a funhouse when standing on two feet, forget standing on one.

Sometimes it’s hard to do everything at once; it’s easy to get overwhelmed by school, relationships with others, and POTS. Most people my age are not so focused on their health. In the end, though, while POTS is a huge part of my life, it is not my life. I work hard to ensure that I balance everything at once so I can be as healthy and happy as possible. While I’ve yet to find the perfect balance, I’ve learned to laugh along the way.

Guest blogger Emily Deaton is a sophmore at James Madison University majoring in English and minoring in Nonprofit Studies. She recently wrote an article on living with a chronic illness as a teenager for the Richmond Times Dispatch. When she isn’t studying, you can find her spending time with friends and participating in JMU’s InterVarsity Christian Fellowship.

A Tale of Two Syndromes – POTS and MCAS

February 17, 2015UncategorizedBlogAdmin

by Dr. Andrew White

There seems to be a growing awareness in the medical and patient community that some patients with postural orthostatic tachycardia syndrome (POTS) also have mast cell activation syndrome (MCAS). It is not clear at this time what the relationship between POTS and MCAS is or how common this overlap is. This is an extremely complicated intersection of two poorly understood illnesses, so there are more questions than answers right now.

I’m assuming if you are reading this blog, you understand what POTS is, but the concept of what mast cells do might be more foreign. Mast cells, for the last century, have been understood primarily in the context of allergic disease. They are the central cells in immediate allergic reactions to things like peanuts or bee stings. They secrete histamine and lead to the formation of hives and itchy rashes. More recently, researchers discovered that mast cells have an important role in wound healing, in the regulation of the immune system and in keeping us healthy. These roles are not as well understood.

Mast cells are present throughout most of our body. They can also be paired with neurons (nerve cells), including autonomic nerve fibers. Mast cells secrete up to 200 different chemicals in response to different stimuli. Doctors usually think of mast cell secretion as an “all or nothing” phenomenon. For example, the mast cell is releasing high quantities of histamine, prostaglandins, and leukotrienes at the time of an allergic reaction -OR- the mast cell is resting quietly, doing nothing. However, this is probably not the case as mast cells are constantly interacting with the environment – sensing – reacting. And in some people, this process might not work correctly.

When mast cells cause symptoms and problems in humans, they generally lead to episodes of abdominal pain, cramping, diarrhea, flushing, itching, wheezing, coughing, lightheadedness and potential problems with “brain fog” or other difficulties with memory. Many of these symptoms can be present in other illnesses that have nothing to do with mast cells. But there appears to be a subset of patients with POTS who are found to have a combination of these symptoms and laboratory evidence of problems with their mast cells.

So what tests can be done to determine if the mast cells are misbehaving? The first test that is usually done is a blood test for tryptase. Tryptase is a protein that comes from mast cells and it is usually elevated in two circumstances. The first is after a severe allergic reaction (anaphylaxis) and the second is if you have too many mast cells in your body (mastocytosis). If you have a significantly elevated tryptase, your doctor might recommend a bone marrow biopsy which is usually the definitive test for mastocytosis. Mastocytosis can be a serious illness, but it is different than the problem that most people with MCAS have. In mastocytosis, there are too many mast cells due to a genetic mutation that made one cell start to grow and divide without control. Patients with mastocytosis and MCAS are treated differently.

For most people with POTS, the tryptase level is normal and they don’t have mastocytosis. In these patients we need to look for other clues that their mast cells are not functioning normally. There are many different chemicals that come out of mast cells and can be measured. Substances like histamine, prostaglandins and leukotrienes are usually measured in a 24 hour urine sample. If the symptoms fit and the patient has evidence of making too much of a mast cell chemical, many physicians are then willing to diagnose MCAS and move on to treatment.

Although different diagnostic criteria are published, a commonly used strategy to diagnose patients is to use all three of the following:

Symptoms consistent with chronic/recurrent mast cell release
a. Recurrent abdominal pain, diarrhea, flushing, itching, nasal congestion, coughing, chest tightness, wheezing, lightheadedness (usually a combination of some of these symptoms is present)
Laboratory evidence of mast cell mediator (N-methyl histamine, prostaglandin D2 or 11-beta- prostaglandin F2 alpha, leukotriene E4 and others)
Improvement in symptoms with the use of medications that block or treat elevations in these mediators

A word of caution about laboratory testing… many of the labs that can be ordered need to be sent on ice. If the labs are drawn at a facility that does not understand what is necessary, the samples may come back falsely normal. Testing is ideally going to be abnormal immediately after a flare up of symptoms. It would make sense to wait for testing on a “bad day.” There are several labs that can be ordered to help identify mast cell activation, but none of them are 100% accurateand all should be interpreted with care.

Treatment approaches are complex and individualized, and beyond the scope of a blog post. The take home point is if you have POTS or another form of dysautonomia and have some other symptoms that seem “allergic” like the ones that I mentioned above, you might want to ask your doctor about getting tested for MCAS. While any doctor can order the tests, an allergist or immunologist is the type of doctor that is most likely to be familiar with testing for MCAS.

Additional Resources
1. The presentation, diagnosis and treatment of mast cell activation syndrome.
2. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options.
3. Hyperadrenergic postural tachycardia syndrome in mast cell activation disorders.

Dr. Andrew White is board certified in Internal Medicine and Allergy & Immunology. His practice at the Scripps Clinic in San Diego, California focuses on immune deficiencies and allergic disorders, including MCAS and mastocytosis. His research focus is on aspirin exacerbated respiratory disease.

Shop for a Cause!

October 18, 2014UncategorizedBlogAdmin

Dysautonomia International is a 501(c)(3) non-profit run entirely by volunteers. We raise funds for research, physician education, patient advocacy and public awareness programs related to autonomic disorders. In case you have’s heard yet, October is Dysautonomia Awareness Month! Dysautonomia International offers several “dysautonomia awareness” items for sale and several businesses have generously offered to donate a portion of their sales to our organization this month.

Top 12 ways that you can shop to support Dysautonomia International:

1. Caramels for a Cause
Treats & Sweets by Barb proudly supports Dysautonomia Awareness Month by donating the full sale price of these Caramels for a Cause specialty packages through the end of October 2014 to Dysautonomia International! Choose your favorite handcrafted caramel flavors, delivered in a pretty white box complete with a Dysautonomia Awareness Month pin and an info sheet inside. Yum!

2. Jamberry Nail Wraps
In celebration of Dysautonomia Awareness Month, from now through the end of October 2014, 30% of the proceeds from every purchase made through Independent Jamberry Consultant Heather Schurr’s website (a fellow POTS/NCS patient) will be donated to Dysautonomia International. Even better – Heather created a unique design just for Dysautonomia Awareness! Sport your favorite cause right on the tips of your fingers!

3. Believe Hair Accessories
The Feisty Freckly Boutique has created two fun and spunky accessories just for Dysautonomia Awareness! These beautiful ‘Believe’ awareness ribbon French clips and headbands are a wonderful way to show your support to the people who live everyday with Dysautonomia. 50% of the purchase price of this item will be donated to Dysautonomia International.

4. Dysautonomia Is Real
Anna Cumbow, of BEINGmomME.com, has created a line of clothing and gear to spread the word about awareness for chronic illness, specifically Dysautonomia and Ehlers-Danlos Syndrome. Through the end of October 2014, 100% of proceeds from these Dysautonomia products will be donated to Dysautonomia International (and 40% thereafter). With a little humor and a touch of style, these shirts and other products will encourage you as well as tell others about Dysautonomia!

5. danceBRAVE Clothing
Dancer and Choreographer, Marinda Davis, has developed an incredibly comfy danceBRAVE clothing line with American Apparel and is generously donating a portion of her proceeds to Dysautonomia International. The raglan shirts say “the thing you take for granted, someone else is FIGHTING for.” The pants say “UNbreakable.” E-mail Marinda at haveyoubeenmarInspired@gmail.com or check out Visit Marinda’s Facebook page for details.

6. Dysautonomia Awareness Bravelets
Bravelets were created by a woman looking for a way for her family and friends to support her mother through breast cancer and a mastectomy, with a physical sign of unity. Bravelets are a symbol of hope, strength and courage. They are designed to help you be brave in the toughest of times. When you purchase an item from Dysautonomia International’s Bravelet’s page, $10 from each bracelet will be donated to our organization. We already know you are brave. Now everyone else will too!

7.Dysautonomia International Gear Shop
We have created several product lines to deck you out in style! These dysautonomia awareness themed shirts and pajamas are fun conversation starters.

8. POTS – Together We Stand! Riding the Waves of Dysautonomia
Written by Dysautonomia International co-founder Jodi Epstein Rhum, this book provides great tips on how to cope with all that POTS throws at you. Jodi donates 10% of her book profits to Dysautonomia International all year long. When you purchase her book through our Amazon store, Amazon donates an additional 6%. Ask your local libraries to order a copy too!

9. Dysautonomia International’s Amazon Store
Use our Dysautonomia International Amazon Store to buy anything on Amazon. When you get to the Amazon website through out link, Amazon donates 6% of your purchase price to Dysautonomia International at no extra cost to you. Ask your friends and family who shop online to use this link too: www.dysautonomiainternational.org/AmazonStore

10. chloe + isabel
In celebration of Dysautonomia Awareness Month, chloe + isabel jewelry boutique owner Lydia Leser will donate 25% of her commission to Dysautonomia International on all orders placed by November 2nd.

11. Dysautonomia Awareness Month Online Charity Auction
Join us on Facebook for an exciting online auction. 100% of the proceeds will benefit Dysautonomia International’s research grant program. Items up for bid include phone consults with top dysautonomia experts, vacations, gift cards, jewelry, clothing and much more! Bidding will remain open until October 31st.

12. Shop with our Corporate Partners
When you shop through one of our Corporate Partners a percentage of the purchase price of anything you buy is donated to Dysautonomia International. Our Corporate Partners include Mary Kay, Norwex, Rodan & Fields Skin Care, Origami Owl jewelry and more.

Thank you to guest blogger Anna Cumbow for compiling this list!

PLEASE PASS THE SALT…

June 17, 2014UncategorizedBlogAdmin

Many doctors recommend increasing salt intake to help combat the symptoms of lightheadeness, low blood pressure, fatigue and brain fog that is often seen in dysautonomia patients. Dysautonomia patients often buy salt pills, or expensive supplements and electrolyte drinks to get their salt, but there are easier, more affordable ways to increase salt in your diet.

Salt vs. Sodium – what’s the difference?
Common table salt is about 99% sodium chloride, a naturally occurring mineral. According to the USDA, 1 g of typical table salt contains 387.6 mg of sodium.

Hypothetically, if your doctor says “aim for 8 grams of salt per day,” how much sodium do you need to equal 8 grams of salt per day?

8 grams of salt pr day x 387.6 milligrams of sodium per gram of salt
= 3101 mg of sodium per day

This means that you’ll need 3101 mg of sodium per day to meet your doctors recommendation of 8 grams of salt. You can do this!

Let’s say you aren’t used to a high salt diet yet and you can only tolerate sprinkling 1/4 teaspoon of salt on your food throughout the day. Overtime your taste buds will get used to a higher salt diet. Our trusty table below tells us that 1/4 teaspoon of table salt equals 590 mg of sodium.

3101 mg of sodium required to meet your doctor’s advice
– 590 mg of sodium you will sprinkle on your food throughout the day (1/4 teaspoon of salt)
2511 mg of sodium from other sources

Obtaining 2511 mg of sodium a day from foods and beverages isn’t that difficult (unless you have severe gastroparesis, as some dysautonomia patients do). In fact, according to the CDC, the average American adult consumes 3,300 mg of sodium per day. The NHS says that, on average, people in the UK consume 3,200 mg of sodium per day.

This being said, here are some common food items and their sodium levels to help our hypothetical patient find their 2511 mg of sodium. Please note, we’re not recommending specific brands. These are just examples.

Food Item	Serving Size	Sodium
V8 vegetable juice	8oz	420 mg
Morton table salt	¼ tsp	590 mg
Boar’s Head Cold Cut Turkey	2oz	330 mg
Board’s Head American Cheese	2 oz	700 mg
Breakstone Cottage Cheese	4oz	340 mg
Athenos Feta Cheese	1 oz.	340 mg
Kikkoman Soy Sauce	1 tsp.	307 mg
Swanson Chicken Broth	2 cups	1720 mg
Swanson Veggie Broth	2 cups	1600 mg
Swanson Beef Broth	2 cups	1600 mg
Knorr Chicken Boullion Cube	1 cube	1270 mg
DelMonte Creamed Corn	1 cup	480 mg
Vlasic Kosher Dill Pickles	1 oz	210 mg
Kalmatta Olives	1 oz.	429 mg
Goya Manzanilla Olives	2 tbsp.	330 mg
Rold Gold Pretzel Rods	6 pretzel rods	1220 mg
Heinz Ketchup	1 tbsp.	160 mg
Goya Capers	1 tbsp.	380 mg
Oscar Mayer Fully Cooked Bacon	3 pieces	340 mg
Hebrew National Quarter Pound Franks	1 frank	1070 mg

Here are some salty items you can find in popular American restaurants. Please note that many of these restaurant items contain obscene amounts of calories and fat, with the exception of the Hot & Sour Soup, which is surprisingly low calorie compared to other items on the list.

Panera Bread – ½ sierra turkey, half greek salad		1790 mg
Arby’s Large Mozzarella Sticks		1940 mg
Denny’s Buffalo Chicken Strips		2780 mg
Olive Garden – Chicken Parm Entree		3380 mg
PF Chang’s Hot & Sour Soup		5000 mg
PF Chang’s Beef & Broccoli		3752 mg
Baja Fresh Chicken Tortilla Soup		2760 mg
Dunkin Donuts Salt Bagel		3420 mg
Applebee’s Weight Watchers Chipoltle Lime Chicken		4990 mg

Shake It Like A Salt Shaker…
Once you’ve acquired a taste for salt, you can begin to sneak more salt into your foods with a good old-fashioned salt shaker. Some food items can hide the taste of excessive added salt better than others. Here are some examples:

mashed or baked white potatoes

baked homemade sweet or white potato fries

almost any steamed or olive oil sauteed veggie

almost any meat

nuts

eggs

cottage cheese

sour cream

ricotta

tomato sauces

alfredo/cream sauces

gravy

Another trick is to mix salty and sweet flavors. A little sprinkled salt goes well with brownies, vanilla ice cream, chocolate chip cookies, and watermelon. Carmel dipping sauce and dark chocolate taste great with lots of salt. For sweet treats, large grain salt adds a nice crunch and gives you more sodium for less of a salty taste, since your tastebuds won’t come in to contact with as much of the salt compared to smaller grained salts.

Salt Supplements
For an added boost, some patients use buffered salt capsules or electrolyte supplements, like Liquid IV, Vitassium or NormaLyte. These are usually well tolerated and there are many different types of supplements available if these aren’t your cup of tea.

Some physicians recommend 1000 mg (1 g) sodium chloride tablets – a big chunk of salt you swallow. Most people find that these tablets upset your stomach, because it is too much salt at once. If sodium chloride pills cause vomiting or diarrhea, you can end up losing more salt than you consumed.

Salt to Sodium Conversion Table
If your doctor has recommended another amount of salt, here’s a handy salt to sodium conversion table. This is a rough approximation, because each type of salt has a slightly different sodium concentration.

1 gram of salt = 388 mg of sodium
2 grams of salt = 775 mg of sodium
3 grams of salt = 1163 mg of sodium
4 grams of salt = 1550 mg of sodium
5 grams of salt = 1938 mg of sodium
6 grams of salt = 2326 mg of sodium
7 grams of salt = 2713 mg of sodium
8 grams of salt = 3101 mg of sodium
9 grams of salt = 3488 mg of sodium
10 grams of salt = 3876 mg of sodium
11 grams of salt = 4268 mg of sodium
12 grams of salt = 4656 mg of sodium
13 grams of salt = 5044 mg of sodium
14 grams of salt = 5432 mg of sodium
15 grams of salt = 5820 mg of sodium
16 grams of salt = 6208 mg of sodium
17 grams of salt = 6596 mg of sodium
18 grams of salt = 6984 mg of sodium
19 grams of salt = 7372 mg of sodium
20 grams of salt = 7760 mg of sodium
21 grams of salt = 8148 mg of sodium
22 grams of salt = 8536 mg of sodium
23 grams of salt = 8924 mg of sodium
24 grams of salt = 9312 mg of sodium
25 grams of salt = 9700 mg of sodium
26 grams of salt = 10088 mg of sodium

Don’t Forget the Fluids!
Increasing salt intake really only helps when you also increase your fluid intake. Most dysautonomia experts recommend consuming 2-3 liters of hydrating fluids per day. Everyone is different, so ask your doctor how much salt and fluid intake is right for you.

Salt comes in many forms. From left to right, Kosher Salt, Bolivian Rose Salt, Balsamic Infused Salt, Hawaiian Alaea Salt, Sel Gris from France, Smoked Sea Salt and Table Salt.

What Dysautonomia Patients Should Know About Antiphospholipid Syndrome

March 5, 2014autoimmune, dysautonomia, NCS, orthostatic hypotension, POTS, researchBlogAdmin

Many patients have sent Dysautonomia International questions about the association between antiphospholipid syndrome and POTS, after an article appeared in the medical journal Lupus on this topic on February 25, 2014. Dysautonomia International asked the first author of this article, Dr. Jill Schofield, to address some of the questions raised by the patient community in the following blog post. Please note that this is not meant to replace advice given by your own physician.

What Dysautonomia Patients Should Know About Antiphospholipid Syndrome
by Jill R. Schofield, MD

We have recently published the first clinical association of postural orthostatic tachycardia syndrome (POTS), neurocardiogenic syncope (NCS) and orthostatic hypotension (OH) with antiphospholipid syndrome (APS). APS is also known as Hughes syndrome. I was delighted to co-author this paper with Professor Graham Hughes, who first described antiphospholipid syndrome in 1983, Professor Yehuda Shoenfeld, considered by many to be the “father of autoimmunity” and Dr. Svetlana Blitshteyn, noted autonomic expert and member of the Dysautonomia International Medical Advisory Board. You can view the abstract of the article here: Postural tachycardia syndrome (POTS) and other autonomic disorders in antiphospholipid (Hughes) syndrome (APS). The journal requires a paid subscription to view the full article, but your physician should be able to access it.

What is APS?
APS is a complex autoimmune disorder that is associated with several different antiphospholipid antibodies. These antibodies may be directed against clotting factors, platelets, and/or the cells that line blood vessel walls and they cause the blood to be too sticky. This results in an increased risk of blood clots in:

1) Arteries–causing most commonly stroke or heart attack.
2) Veins–causing deep vein thrombosis (DVT) of the legs and/or pulmonary embolus (PE) of the lungs.
3) Placenta–causing recurrent miscarriage, stillbirth or low birth weight babies.

In addition to an increased risk for blood clots, a number of other manifestations may occur in APS due to “sludging” of the blood. The list of these non-clotting manifestations is long and they are less well known to most physicians. Some of these manifestations include migraine (which may be severe and refractory to usual treatments), memory loss, seizures and stress fractures. We have now demonstrated that POTS, NCS and OH may also occur as non-clotting manifestations of APS.

How is APS diagnosed?
The Sapporo criteria for the diagnosis of definite APS requires:

1. Clinical criteria: Thrombosis (blood clot) or very specific pregnancy complications (such as three or more miscarriages).

2. Laboratory criteria: Medium to high titer antiphospholipid antibodies on more than one occasion at least 12 weeks apart.

These criteria were designed for rigorous clinical research studies, not for diagnosis. Unfortunately, most practicing physicians believe they were designed for diagnosis and this has resulted in patients with low titer antibodies and/or non-clotting manifestations not being diagnosed with APS, when they do have the syndrome. My hope is that we can change this perception, because I believe that with earlier diagnosis, we can prevent the thrombotic events!

For our study, we used the following criteria:

At least one clinical manifestation of the syndrome (including the non-clotting manifestations) along with the presence of one or more of the antiphospholipid antibodies in any titer:

1) Anticardiolipin IgG and/or IgM
2) Beta 2 glycoprotein I IgG and/or IgM
3) Lupus anticoagulant

It is common to have only one of these antibodies, but some patients have two or even all three. Occasionally various infections might cause a transient elevation in one or more of these tests, so the diagnostic criteria require you to have one or more of these antibodies on more than one occasion at least 12 weeks apart. Notably, many of the patients in our study had low titers of the APS antibodies.

The lupus anticoagulant test has a misleading name because it is not a test for lupus and it is associated with increased clotting, not decreased clotting as the name implies. APS, however, may occur along with lupus, as well as Sjogrens syndrome or rheumatoid arthritis. It may also occur on its own. Most APS experts are either rheumatologists, hematologists or obstetricians, but most physicians are familiar with these tests, they can be ordered at any lab and they are relatively inexpensive.

Once a diagnosis of APS is made, there is no indication to repeat the antibody tests. APS is not known to just resolve, but the antibodies are known to wax and wane over time. There are many stories of patients who have had their levels fall into the normal range when their physicians repeatedly tested their antibodies and when told they no longer had APS and could stop their blood thinners, they went on to develop stroke or other major clotting events.

Regarding imaging tests, CT or MRI scans are used to test for stroke or other blood clots in APS patients with suspicious symptoms and clots in this syndrome can be found in any blood vessel. Some APS patients have “white spots” on brain MRI scans; these are felt to represent very tiny clots. Ultrasound is commonly used to test for blood clots in the legs when there is new leg pain and/or swelling.

How common is APS?
APS is not rare. It has been estimated to affect approximately 1 out of 100 people (1% of the population). It is, however, underdiagnosed.

We do not know how many POTS, NCS or OH patients have APS, but Dysautonomia International recently funded a research project designed by Dr. Svetlana Blitshteyn to try to shed some light on the topic of autoimmune markers and autoimmune conditions in patients with POTS. Dysautonomia International will make an announcement when Dr. Blitshetyn’s study results are released.

We also do not yet know how often autonomic disorders occur in APS patients.

Should all patients with POTS be tested for APS?
Because this is a newly described clinical association, we have a lot to learn. At this time, I believe all POTS patients should be tested for APS; other physicians might disagree. At the very least, I believe all POTS patients with any of the following should be tested for APS: migraine, memory loss, balance trouble, livedo reticularis, Raynaud’s phenomenon, history of miscarriage, another autoimmune condition, a family history of blood clots or a family history of autoimmune disease. These were the most common findings in the patients in our study. Also, of note, three of the 15 APS patients included our study also had Joint Hypermobility Syndrome (JHS).

Raynaud’s Phenomenon Livedo Reticularis

The reason I believe all POTS patients without an apparent cause should be tested for APS is that POTS caused by APS might improve with a trial of aspirin, clopidogrel, heparin, warfarin and/or IVIG. Many of these agents increase the risk of bleeding, however, which makes many physicians not experienced with APS nervous about using them in APS patients who have not had a clotting episode. Because APS is a very hypercoagulable condition, however, APS patients (even those on high doses of blood thinners) have a much greater risk of clotting than bleeding. Despite this, Professor Hughes believes that many APS patients have been under-treated due to physician concerns about bleeding.

Additionally, APS is a serious medical condition and early diagnosis can help reduce the risk of major complications. If you have one or more of the APS antibodies, you are at an increased risk for blood clots. If you are aware you have one or more of these antibodies, you can reduce your risk of blood clots by avoiding cigarettes, birth control pills or hormone replacement therapy. You can also be sure that if you have other vascular risk factors, such as high blood pressure, high cholesterol or diabetes, they are treated aggressively. Aspirin has also been shown to reduce the risk of arterial events in patients with APS antibodies. Additionally, Professor Yehuda Shoenfeld’s research has shown that vitamin D levels are low (less than 15 ng/ml) in half of patients with APS and that low levels are associated with an increased risk for clotting and non-clotting manifestations of the syndrome. So it makes sense for these patients to also be treated with vitamin D.

How is APS treated?
In addition to the points made above, APS patients who have had an arterial or venous clotting event are generally treated with blood thinners (usually warfarin or heparin) for life. There are also several newer oral anticoagulants, one of which is presently being studied in APS patients in London. Until this data is available, these drugs are generally not recommended for most APS patients. APS patients with recurrent miscarriages are treated with aspirin and usually heparin (warfarin is contraindicated in pregnancy) throughout their pregnancy and for at least 6 weeks after delivery.

Importantly, Professor Hughes has found over the years that many of the non-clotting manifestations of APS often improve significantly or may even be completely aborted with anti-platelet agents such as aspirin or clopidogrel, and/or warfarin or heparin. He has also found this to be true for autonomic symptoms in some APS patients. Two patients in our study with POTS that did not improve with standard APS treatments (despite improvement of other APS manifestations) improved significantly with regular intravenous immunoglobulin (IVIG) therapy. Unfortunately, IVIG is very expensive and many insurance companies require more data than two case reports before approving its use for a specific indication.

Where can you find additional resources on APS?
Dysautonomia International has a brief explanation of APS on its website, as well as some links to APS related journal articles and non-profit organizations. You can find a physician experienced in APS by going to APSAction.org, an international organization started in 2010 to improve collaboration amongst APS experts and to facilitate APS research. An excellent patient forum on APS is HealthUnlocked Hughes syndrome and Professor Hughes has written a great book for patients entitled, Understanding Hughes Syndrome: Case Studies for Patients.

Dr. Schofield is a Johns Hopkins trained internist who has developed an interest in APS over the last few years. She currently practices in Denver, Colorado but plans to develop a multi-disciplinary (i.e. involving physicians from many specialties) APS clinic in an academic environment and is currently exploring options for where best to do this.

Rare Diseases… Not So Rare

February 28, 2014advocacy, awareness, Dysautonomia InternationalBlogAdmin

RDD_white Dysautonomia International is pleased to partner with the National Organization for Rare Disorders (NORD) to celebrate Rare Disease Day today. Did you know that overall, rare diseases are not that rare?

1 in 10 Americans has a rare disease. That’s over 30 MILLION people, and there are even more people with rare diseases around the world. Two thirds of people with rare diseases are children. There are over 7,000 identified rare diseases and new diseases are discovered every year.

What is a “rare” disease?
In the United States, a disease is considered rare if it
is believed to affect fewer than 200,000 Americans.
The European Union considers rare diseases to be
those that impact fewer than 1 in 2000 individuals. Other countries have similar definitions.

What are some examples of rare diseases?
Rare diseases are present across the spectrum of medical conditions. Most types of cancer are rare diseases. There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.

Within the realm of autonomic disorders there are several rare diseases such as Autoimmune Autonomic Ganglionopathy, Multiple System Atrophy, Pure Autonomic Failure, Familial Dysautonomia, and Dopamine Beta Hydroxylase Deficiency.

What are some of the problems experienced by people who have rare diseases?

Difficulty in obtaining an accurate diagnosis
Limited treatment options
Little or no research being done on the disease
Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
Treatments that are generally more expensive than those for common diseases
Reimbursement issues related to private insurance, Medicare, and Medicaid
Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system

What can you do to help?
Share this blog post on social media or e-mail today. For a list of other easy ideas to help spread the word about Rare Disease Day, you can visit the following websites:
U.S. Rare Disease Day website
Global Rare Disease Day website

New evidence of autoimmunity in POTS!

February 25, 2014autoimmune, POTS, researchBlogAdmin

IS POTS AN AUTOIMMUNE DISEASE?

Big news this week in POTS research! Researchers from the University of Oklahoma and Vanderbilt University have identified evidence of adrenergic receptor autoantibodies in a small group of POTS patients, suggesting that POTS may be an autoimmune condition in these patients. The study was published in the Journal of the American Heart Association (JAHA). JAHA is an official journal of the American Heart Association, so this is great news for POTS awareness!

To help patients better understand what this means, Dr. David Kem from the University of Oklahoma Health Sciences Center has kindly provided Dysautonomia International with a patient friendly explanation of this complex research. Before we get to Dr. Kem’s explanation, let’s go over the basics of adrenergic receptors and autoantibodies.

Adrenergic receptors are present on the surface of cells in many different parts of the body, including the heart, blood vessels, nerves, brain, lungs, bladder, gastrointestinal tract and elsewhere. There are two main types of adrenergic receptors in the body – alpha adrenergic receptors and beta adrenergic receptors. Within the alpha and beta types, there are many different subtypes (alpha-1, alpha-2A, alpha-2B, alpha-2C, beta-1, beta-2, etc.)

Think of adrenergic receptors like a TV antenna (if you are old enough to remember when TVs had antennas!). If the TV antenna picks up a signal, it transmits a message across the screen. In adrenergic receptors the “signals” are chemicals present in the body called catecholamines (primarily epinephrine and norepinephrine). The “message” is what the catecholamine tells the receptor to do. For example, constrict a blood vessel or make the heart beat faster.

Image of an adrenergic receptor, which is stimulated by catecholamines.

Antibodies are proteins created by your own immune system to protect you from pathogens, like bacteria and viruses. The human immune system can make more than 1 trillion different antibodies, each one meant to protect us from a different pathogen. Unfortunately, sometimes the antibody formation process goes awry, and the antibodies created by your immune system can turn against your own cells. These trouble-making antibodies are called autoantibodies. Autoantibodies can attack, damage or interfere with the functioning of healthy tissues and cells in your body.

Now that we all know what adrenergic receptors and autoantibodies are, here is what Dr. Kem has to say about the adrenergic receptor autoantibodies recently found in POTS patients:

POTS occurs frequently, but not exclusively, in younger females and its onset is occasionally preceded by or associated with a viral-like illness. It is more than a minor annoyance for most patients and leads to significant life changes and limitations in normal life. Our present study (Autoimmune Basis for Postural Tachycardia Syndrome) has produced data supporting the idea that production of autoantibodies, circulating proteins that normally fight such infections, have instead interacted with critical site(s) on specialized cell membrane proteins which alter their normal cell function.

These autoantibodies interfere with the system which controls the ability of blood vessels to constrict, which is needed to prevent a drop of blood pressure as a person stands. In POTS patients, this inadequate response to standing leads to a generalized increase of activity in the body’s sympathetic nerve system, which frequently normalizes the blood pressure. This increased nerve activity, however, increases the heart rate which is a prominent symptom in POTS.

We have also discovered a second group of autoantibodies in some POTS patients which directly increase the heart rate.

The combination of these two autoantibodies appears to cause the abnormal heart rate response observed in all 14 POTS patients we have tested to date for these autoantibodies. We have previously identified similar autoantibodies in individuals diagnosed with idiopathic orthostatic hypotension (Editor’s note: see Agnostic Autoantobodies as Vasodilators in Orthostatic Hypotension: A New Mechanism and Autoantibody Activation of Beta-Adrenergic and Muscarinic Receptors Contributes to an “Autoimmune” Orthostatic Hypotension).

These autoantibodies may explain why beta blockers aren’t always effective in treating the tachycardia seen in POTS, since beta blockers fail to completely block autoantibody activity on their protein receptor and they fail to alter the partial blockade of the autoantibodies on the arteriole blood vessels that initiate the orthostatic problem.

Confirmation of our findings will require testing a larger group of POTS patients for these autoantibodies. We hope to eventually develop treatments to block these autoantibodies, without blocking the target receptor proteins at the cell surface at the same time. Such agents are in development and within a few years may be applicable in POTS. This approach may prove useful in several other diseases which are caused by similar autoantibodies.

Please note that Dr. Kem and the other researchers involved are not able to test patient blood samples for these autoantibodies outside of a research setting at this time. There are very strict federal laws that prohibit them from doing so. If such a test becomes available to the public, Dysautonomia International will be shouting it from the roof tops. Imagine that – a blood test to help diagnose POTS ? We’re looking forward to it, but there is much work to be done.

Dysautonomia International is committed to funding additional research in this area as quickly as possible. We are optimistic that this will lead to a better understanding of POTS, better ways to diagnose it, and most importantly, better ways to treat it.

If you would like to support the next phase of this exciting new research, please consider making a donation to Dysautonomia International today. You can make a difference in the lives of millions of people around the world living with POTS!

Postural Orthostatic Tachycardia Syndrome vs. Postural Tachycardia Syndrome

February 23, 2014awareness, POTSBlogAdmin

POTS or PoTS? Postural tachycardia syndrome or postural orthostatic tachycardia syndrome? What is the correct term to use?

Dysautonomia International uses the term postural orthostatic tachycardia syndrome and the acronym POTS. That’s not to say that PoTS or postural tachycardia syndrome are wrong. Both terms and acronyms are correct, but there are several reasons why Dysautonomia International uses the longer term.

1. The original term is “postural orthostatic tachycardia syndrome.”
The first article describing POTS was written by Mayo Clinic researchers Dr. Ronald Schondorf and Dr. Philip Low in 1993. They used the term “postural orthostatic tachycardia syndrome” and the acronym POTS.

2. Slightly more journal articles have been published using “postural orthostatic tachycardia syndrome.”
The literature is pretty closely divided, but as of today’s date, if you search on PubMed.gov, the online repository of 23 million medical journal articles abstracts from the US National Library of Medicine, you will find 262 abstracts if you search for the phrase “postural orthostatic tachycardia syndrome.” If you search for the phrase “postural tachycardia syndrome” you will find 221 abstracts.

3. The general public much more commonly uses “postural orthostatic tachycardia syndrome.”
As of today’s date, a Google search for “postural orthostatic tachycardia syndrome” returns 194,000 results. A Google search for “postural tachycardia syndrome” only returns 38,100 results.

4. POTS patients and their doctors are more likely to use “postural orthostatic tachycardia syndrome.”
Dysautonomia International asked a large international group of patients what term they used and what term their doctors used. Over 90% of patients responded that they and their doctors used “postural orthostatic tachycardia syndrome” and POTS.

5. Most importantly, using the term “postural orthostatic tachycardia syndrome” may help patients get better medical care.
Including the “orthostatic” word helps a medical professional, who doesn’t know what POTS is, understand a basic principle; that the person who has POTS has an orthostatic problem. Most doctors and nurses, even if they have never heard of POTS, are aware of orthostatic hypotension and maybe even orthostatic intolerance, and they have been trained how to take orthostatic vitals. Including “orthostatic” in the name of the condition gives two big hints to medical professionals that may not know what to do with the POTS patient presenting in their ambulance, ER or medical office: (1) maybe this person needs to have their blood pressure and heart rate checked in different positions, (2) maybe we need to lay this person down to prevent a faint. A person unfamiliar with POTS would not be reminded of these clues to the nature of the diagnosis if you simply call it “postural tachycardia syndrome.”

There is no right or wrong answer, but Dysautonomia International believes that anything we can do to help POTS patients obtain better medical care should be taken into consideration.

What term do you use?

Research Update: more proof POTS is not “all in your head”

February 11, 2014UncategorizedBlogAdmin

Many physicians mistake the physical symptoms of POTS, such as tachycardia, palpitations, and shortness of breath, as the signs of an anxiety disorder or some other psychological problem. Prior research has documented that POTS is not associated with increased levels of anxiety or psychiatric disorders, that POTS symptoms are phenomenologically different and clinically distinguishable from panic disorder, and that the upright tachycardia seen POTS patients is not caused by anxiety.

Despite publication of this research, many physicians continue to misdiagnose POTS patients as having anxiety disorders or other psychiatric conditions. While psychiatric disorders are serious health problems that require proper treatment, the treatment for these conditions is not the same as the treatment for POTS, and can sometimes make POTS symptoms worse.

New research provides additional proof that POTS is not “all in your head.” A study recently published in Clinical Autonomic Research, Visceral sensitization in postural tachycardia syndrome, examined whether palpitations frequently reported by POTS patients were psychological or organic in origin. Palpitations are those thumping, fluttering, pounding sensations everyone feels from time to time in their heart, but many POTS patients experienced palpitations on a regular basis, and much more so than healthy individuals.

This study found that POTS patients “did not amplify their somatic and visceral sensations compared with control subjects, indicating that they are not predisposed to exaggerating every symptom and militating against psychologic origin.” After analyzing the data collected, the study’s author, Dr. Ramesh Khurana, concludes that the palpitations in POTS “are of an organic origin.”

However, Dr. Khurana notes that POTS patients had greater ability to discriminate the type of palpitation compared with healthy subjects, “favoring visceral hypersensitivity and a central origin of POTS symptoms.” Visceral sensitivity is a medical term used to describe an increased sensation of pain and sensations coming from your own internal organs, more so than a normal person would experience. By “a central origin” Dr. Khurana is referring to the central nervous system, which includes the brain and spinal cord. He explains, “potential locations for visceral hypersensitivity include sensory receptors in the cardiovascular system, extrinsic sensory afferent neurons, spinal nociceptive neurons, medulla, midbrain raphe, hypothalamus, and cortex.”

Dr. Khurana also reminds us that POTS is heterogeneuous condition, and that the concept of visceral sensitization may not apply to every POTS patient. He notes that palpitations did not occur in all of the POTS patients who participated in the study.

Dysautonomia International is actively raising funds to support additional research on POTS. If you would like to support POTS research, please visit our donation page today.

How to Find Accurate Scientific Information on the Web

January 30, 2014Patient Education, patient resources, researchBlogAdmin

As both a POTS patient and a researcher, my goal in writing this blog post is to help all POTS patients find reliable information on their illness and become a refined connoisseur of scientific literature. By doing this, you can generate intelligent hypotheses and engage in meaningful discussions with doctors and scientists – because we need your help. You don’t need a doctorate degree to contribute to science.

When I first started researching POTS in a laboratory setting, I thought I knew a lot about the disorder since I had done my own online research for years. I had no idea how much of what I “knew” about POTS was based on speculation or even incorrect information.

For instance, I thought that POTS involved an overstimulation of the sympathetic nervous system that led to symptoms, because I read about it on so many blogs, websites, and Wikipedia. Talking with my mentors and digging deep into the existing scientific literature, I found out that it’s not that simple. In fact, I learned that most POTS patients actually have a blunted increase in sympathetic nerve activity upon standing.

Published scientific papers are much more reliable than other sources of information because they are peer-reviewed. This means that before a paper is accepted and published by a journal, it is sent to at least two experts in the field who either approve, suggest revisions be made, or reject the paper. The peer-review process helps ensure that the research is meaningful and that the paper is a valid representation of the study.

There are three main types of research papers:

1. Case Reports and Case Series
Case reports and series are detailed reports of an individual or a small series of patients. Case reports and series are often used to describe a rare disease, or an unusual presentation of a common disease. The report includes patient demographic information, as well as symptoms, diagnosis, and treatment of the disease. However, case reports and series only contain anecdotal information about one patient or a small number of patients; they are not science and most are not peer-reviewed. Case reports are given the least weight and credibility by medical professionals and researchers.

2. Original Research Articles
Original research articles contain a detailed report from the researchers about the study they conducted. Original research articles are usually divided into five parts: (1) the abstract which summarizes the study; (2) the introduction, which gives you some background and states the objective and hypothesis for the study; (3) the methods that explain how the study was conducted; (4) the results; and (5) the discussion or conclusion which puts the results in the context of the field of research and explains the study’s significance and implications. Original research articles are a primary source and there is no better way to gather information than directly from the researchers themselves.

There are many different types of original research articles, and the study design is the major factor in determining how much weight to give a study. Observational studies, such as questionnaires, study research subjects at one or more time points, but no intervention is given. An interventional study looks at the effect of a certain treatment (a drug, exercise, diet, etc.) on a group of subjects and either compares the subjects to themselves before the intervention or to a control group. When reading interventional studies look for keywords in the methods like “control,” “placebo-control”, “blind” and “double-blind,” “crossover,” and “randomized.” A control group is a group of subjects that did not receive treatment, which is compared to a treatment group. A placebo-control means that one group received a placebo treatment instead of the active treatment. A placebo is a “fake” treatment, like a sugar pill or an injection that doesn’t contain any drug. In blinded studies the subjects don’t know what treatment they receive and in double-blinded studies neither the subjects nor the researchers are aware of the treatment (usually a nurse or lab technician knows the treatments for safety reasons). In a crossover study, each subject receives more than one treatment during the study duration and randomized means that the order that the treatments are given varies across subjects. All of these design features strengthen the study and make the results more compelling.

3. Review Articles
Review articles are papers that summarize a certain topic by discussing results from numerous original research articles. There are pros and cons to review articles. They are great for getting a broad overview of a topic. Journals invite experts on certain topics to write review articles and they are also peer-reviewed so the information is very reliable. The downside is that review articles do not go into the methods of every study they cite and the authors can sometimes misinterpret the primary literature in the review article. Therefore, if you read a review article I would suggest that you look at the references and find the original review articles that correspond to the sections that interested you and skim those as well.

Reading peer-reviewed research and review articles is a good start, but keep in mind that not all journals carry the same weight. A journal’s impact factor is a good indicator of how important the information it publishes is. A study that will change the face of medicine can get into a high impact journal like The Journal of the American Medical Association or JAMA (impact factor = 30) or for groundbreaking cardiovascular research, Circulation (impact factor = 15). Other studies with less powerful data may be published in lower impact journals like Clinical Autonomic Research (impact factor = 1.5). This doesn’t mean that a journal with a low impact factor contains false information, articles in these journals are peer-reviewed as well, yet the data may not be as compelling or noteworthy. Low impact journals often focus on more specific topics for a targeted audience, which can be a good thing. For example, Circulation is read by most cardiologists, but it does not publish many papers on POTS. On the other hand, Clinical Autonomic Research publishes on POTS often and is read by most who study disorders of the autonomic nervous system.

However, just because something is published in a good peer-reviewed journal doesn’t mean it’s a proven fact. For example, we have all heard that “500,000 Americans have POTS.” This factoid has been published in dozens of credible journal articles which all cited to one paper for this estimate. Yet the “original” paper had no discussion to how this estimate was made. This “fact” was an educated guess made by experts in the field, which I found out by contacting the author directly. This experience taught me to be a critical reader and get to the source of a fact to see how accurate and precise it is.

If I’ve learned anything from being involved in medical research for the past three years, it’s to not believe everything I read. I encourage you all to become informed patients. Search for papers from credible peer-review journals and become a critical reader of scientific literature. Below are some tips to get you started.

How to find a credible journal article
1. Search for primary literature on databases like PubMed.gov and Google Scholar. Don’t believe everything you read on Facebook groups, blogs, Wikipedia or commercial websites. You can also find links to many primary sources on POTS and other autonomic disorders on the Dysautonomia International website.

2. Review articles on Medscape, Up to Date, and in most journals are good for a broad overview of a topic, but check the articles they cite before accepting anything as fact.

3. When you find a paper, look at the journal’s name and impact factor. The higher the impact factor, the more highly regarded the journal. This is usually available on the journal’s website.

4. Look at the author affiliations – are they from a well-known school/hospital with a reputable autonomic lab?

5. Look at the senior author (last author on the list). He or she is the one that oversaw the study. Do you recognize his or her name as an autonomic expert?

6. Look at the author(s) prior publications. If you click on the authors name on PubMed.gov, there is usually a link to other studies they have published. Have they published other studies on POTS or other autonomic disorders? If you can’t find this on PubMed.gov, the researcher may have a list of publications on his or her biography page, which can often be found on the website of the university he or she is affiliated with.

How to critically read an original research paper
1. Start with the abstract – this is the summary. See if this article is interesting to you and worth reading.

2. Read the introduction. Look for the purpose of this study. Read about what was known and unknown prior to this study to give yourself some context. Sometimes the background for a study can lead you to another fascinating paper to read later.

3. Glance at the methods. See what was actually done in the study. You don’t have to understand all the details of the methods, but make sure the methods make sense for the topic. Some methods are more reliable and valuable than others and you will learn this over time.

4. Look at the results and figures. Check what is statistically significant (if P < 0.05, it’s significant). If it’s not statistically significant, it’s not a solid finding.

5. Ask yourself, do the conclusions make sense based on the results? The conclusions can sometimes be much broader than what the results actually warrant.

6. If this study involves human subjects and you are trying to decide if these findings apply to your circumstance, check the inclusion criteria in the methods section. Also look at subjects’ demographic data (ie. age, gender, race, etc.) in the results to see if the study subjects are similar to you.

7. Do not be afraid to get to the source. If you have questions about the research paper, send a respectful and concise email the corresponding author. Usually their email is listed on the first page of the paper.

Guest contributor Amanda Ross graduated from Johns Hopkins University with a B.A. in Behavioral Biology. Working with noted POTS researchers, Dr. Julian Stewart and Dr. Peter Rowe, Amanda has published two peer-reviewed research papers on POTS. She also gave a presentation on one of her studies to fellow researchers at the 24^th International Symposium on the Autonomic Nervous System. She is currently pursuing a Ph.D. in Neuroscience at Pennsylvania State University College of Medicine and looks forward to conducting additional research on POTS and the autonomic nervous system. Amanda is a founding member of the Dysautonomia International Patient Advisory Board.

The Dysautonomia Dispatch

The blog of Dysautonomia International