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

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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

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