Suggest tests to diagnose Ehlers-Danlos syndrome and hypermobility syndrome

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Posted on Fri, 28 Aug 2015 in Hypertension and Heart Disease
Question: In 2014 I was diagnosed with postural orthostatic tachycardia in the hospital. I would stand up and I would get winded (out of breath) and my heart rate with go easily to 140 within minutes of standing. I was put on metoprolol succ 12.5mg and it seems to work somewhat however my pulse rate goes up over 30 points when standing just not as high 100bpm instead! I feel like I am incapacitated most of the time and truly suffer for this! I recently found a pots expert and when he saw the way I was sitting (like a pretzel) he believes I have ehlers danlos syndrome. I can do all the things on the Beighton score test and have been in chronic joint pain recoded for years. My appt with a geneticist in my Sinai in New York is in mid september! How do they diagnose this? What tests? Do they do blood right away or do the screen you first? Can you be hyper XXXXXXX and have pots but not ehlers? Please help
doctor
Answered by Dr. Ilir Sharka 1 hour later
Brief Answer:
A genetic testing is required to establish the diagnosis

Detailed Answer:
Hello!

Thank you for asking on HCM!

I read your question carefully and understand your concern.

I would like to explain that there is no a clear distinction between these two disorders. From different studies it has come into the conclusion that severe forms of hypermobility syndrome and mild forms of Ehlers-Danlos syndrome hypermobility type are the same disorder.

Besides Ehlers-Danlos syndrome (which is a connective tissue disorder), hypermobility symptomatology may be caused by other disorders affecting:

a)     the shape of the ends of the bones
b)     protein deficiency or hormone problems
c)     muscle tone
d)     proprioception.

So hypermobility syndrome deserves a comprehensive and multispecialty differential diagnosis to address the exact responsible cause.

Regarding your positive Beighton test score, I would like to underline that it has actually been revised into a more comprehensive criteria score. Actually hypermobility is diagnosed using the Brighton criteria. The current Brighton criteria uses the Beighton score in conjunction with other symptoms and criteria.

From the other hand Ehlers-Danlos syndrome is not just a clinical diagnosis, but genetic testing is also required to confirm the diagnosis and differ it from the other hypermobility syndromes and causes.

Some nonspecific findings are multiple calcification of small, deep, palpable, and movable nodules (often present in the subcutaneous tissue) viewed as opacity on radiographs.

POTS is frequently associated with chronic fatigue syndrome (which may explain your incapacity feeling), with migraine-like headaches, small fiber neuropathy and dysautonomia, etc..

In addition hypermobility is also a concomitant finding in POTS, but whether it is an expression of Ehlers-Danlos, Marfan syndrome, pseudoxantoma elasticum, or other reasons above mentioned, remains a matter of genetic testing.

Hope to have been helpful!

Feel free to ask any other questions whenever you need!

Best wishes,
Dr. Iliri

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Ilir Sharka 15 minutes later
I really appreciate your lengthy answer. I also was diagnosed with reynauds syndrome, fibromyalgia, some degenerating back issues, brain stem dorsal/Pon lesions from migraines? And vasovagal. I was having severe menstrual periods 3x a month with severe bleeding I had a hysterectomy last year for having adenomyosis. I have chronic uti infections that have colonized klebsiella and e-coli and I'm sceen for that monthly! The question I have is could being very hypermobile just be a coincidence or does that mean something with a pots diagnosis! I'm been trying to get to the bottom of this for years I've had so many different diagnosis
Just want to know if all these symptoms and things are related and caused by one thing or could their really be all these things wrong
doctor
Answered by Dr. Ilir Sharka 34 minutes later
Brief Answer:
Your clinical conditions are so complex!

Detailed Answer:

Hi again!

As I explained you before, POTS is frequently associated with other disorders and syndromes, among others also hypermobility syndrome.

I don't believe your incapacity feeling (which may be a really big problem), comes from hypermobility syndrome (whether it is an expression of Ehlers-Danlos syndrome or not), but from other symptoms-complex like especially fibromyalgia, and other chronic disorders (articular pain, migraine, dysautonomia, etc).

Hypermobility syndrome usually do not exert any worrying complains.

I was trying above to explain that clinically not only connective tissue disorders (like Ehlers-Danlos syndrome, etc) my be responsible for hypermobility, but also other more benign conditions.

I am sorry to declare that you are not going to get any clear responses when speaking about hypermobility syndrome, and its correlation with connective tissue disorders classification, as there is a great divergence of experts opinions in that field.

The only really helpful contribution on that matter will come by genetic testing.

So, I would advise just being patient until that geneticist appointment.

Best regards,

Dr. Iliri
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Ilir Sharka

Cardiologist

Practicing since :2001

Answered : 7254 Questions

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