EDS Conference: Diagnosis
For such complex diseases, the diagnoses of EDS and POTS are actually quite straightforward. Unfortunately, it takes an average of 6 years for patients to arrive at an accurate diagnosis for POTS symptoms (for me it was closer to two decades). EDS research is not as prolific as POTS, so I don't have the statistic, but I'd guess that EDS patients have an even longer wait than POTS. The process of getting there, the false diagnoses, and prolonged symptoms, can be life-altering.
EDS:"likely the most common, though the least recognized, heritable connective tissue disorder" Dr. Marco Castori
But, if you or someone you know is looking into a diagnosis, here are some thoughts from the Baltimore conference that could help!
(See Dr. Francomano's slides for more)
Step 1: Beighton Score
The Beighton Score, which I've written about before, is a simple test that you can do from home to determine if you have hypermobile joints.
What's great about the Beighton is you can do it at home and be ready to go to your doctor with some info, to see what they think. It's free, quick, and easy. There are some problems to be aware of though -- the first time a doctor did the Beighton score with me, I didn't get a positive score. They didn't think my elbows and knees hyperextended, and weren't impressed with my pinkies. It took seeing a PCP with EDS to recognize that even the slight angles in my joints are enough to be considered hyperextension. Tip #1: get multiple opinions.
Also, while my fingers, knees, and elbows are slightly bendy, the real wigglers are my shoulders, hips, ankles, wrists, and spine. The Beighton doesn't test for any of those. Tip #2: if you have other joints that you know are loose, tell your doctor to factor that in!
You might think "but I'm not loose! My muscles are all super tight! I can't even get close to touching my toes! etc..." YES. Your muscles are likely tensed up to keep your loose joints from flopping. That's normal. Tip #3: hypermobile does not necessarily mean flexible.
Step 2: Additional Features
If you pass the Beighton, you have HSD (Hypermobility Spectrum Disorder), but not necessarily EDS. EDS is hereditary and has other markers to look for, like soft and stretchy skin, unexplained stretch marks, etc. You need two or three of the features A, B, and C. See criteria for Feature A below:
Feature B: Positive family history (1 or more 1st-degree family member with EDS)
Feature C: Recurrent/chronic pain, dislocations, or instability in two or more limbs.
Step 3: Rule out other conditions
If you fit these three criteria, it's a positive diagnosis!
If you request testing for POTS, most doctors will suggest a tilt table test. This means being strapped to a table while machines monitor your vitals. You'll start horizontal, and then they'll tilt you up to vertical for 10+ minutes. The test can be quite effective, but the limitations are:
Not many facilities can do it, so you may need to travel
It feels pretty terrible if you do have POTS (and even for some without)
There's a simpler test that, while seen as less official, is often pretty conclusive. You should lay down on your back until you feel at rest. Take your BP and HR. Then stand up quickly and take BP/HR again. Take it every minute or two for ten minutes, while you stand still. No swaying, bending knees, wiggling your legs, pacing... I mention this because most of us with POTS will become uncomfortable and start subconsciously doing these things to try to regulate our BP, but that obviously messes with the results.
If you do have POTS, the drop in BP when you stand will send your HR up more than 30bpm, and stay elevated during the 10 mins. See graphs below from Dr. Satish Raj's slides:
And his diagnostics slide:
Things to watch out for:
The first two times I was tested for POTS, it came out inconclusive. POTS is not constant -- some days are better/worse than others. Also, I have enough medical PTSD that my HR was quite elevated even "at rest" when seeing a new doctor. So there was not a change of 30+ because it started 20 or so higher than usual. I had to buy my own BP cuff and try it at home several times to get a sense of when it was happening and when not. Feel normal? Try the test. Feel terrible? Test again. When I compared, it was clear why I felt so crappy. My HR (usually 70ish) would randomly spike to 115 some days. Now that I know what to look for, my POTS at-home tests look like textbook positive results.
Diagnosing MCAS is extremely tricky. I have not actually been able to get positive test results, so it is not officially diagnosed, although three or four specialists have agree that it's the only thing that makes sense.
The diagnostic criteria (right) are simple in theory:
1. Do you have consistent symptoms?
2. Do you respond to treatment?
3. Do you have positive test results?
The problem is that MCAS is so newly researched (and under-researched), and the mast cells are such richly complex cells, that there's not a consistent way to get positive labs. Mast cells release hundreds of mediators. Of those, almost all are also released by other cells, so an elevation doesn't mean proof of mast cell activation. Tryptase is only released by mast cells, but not all MCAS patients have elevated tryptase levels. You can have colon biopsies stained for mast cells, but most labs are only trained to look for mastocytosis. They may give you a negative result without even looking for MCAS, which presents differently. I've now tried twice to get my biopsies stained, and it has yet to happen correctly. 24-our urine tests while sick can help, but become useless if you forget to refrigerate your pee at any point, even during transportation, or if the lab accidentally leaves it on the counter for a few minutes. (Boy, do I remember how fun it was to refrigerate my pee in a mason jar at work last year....)
So, since I have almost all the symptoms and respond well to treatment, we're assuming it's MCAS.