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If a person suspects that he has Ehlers-Danlos syndromes, what kind of an expert doctor should he go to in order to check this possibility?

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    Actually @JohnP some of the subtypes, especially III (hypermobility) are more subtle and are often missed - sometimes caught in early or even later adulthood when the complications become more clinically apparent. – DoctorWhom Nov 10 '18 at 19:56
  • @DoctorWhom ty ma'am. – JohnP Nov 10 '18 at 22:59
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    @JohnP Yw, but it's ma'am :) – DoctorWhom Nov 11 '18 at 3:25
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Ehlers-Danlos encorporates a spectrum of related connective tissue disorders, which are genetic, but it is not uncommon for some subtypes to be missed until the complications manifest more dramatically clinically - and that may not be until adulthood. This may be by early arthritis, recurrent joint dislocation, vaginal prolapse, aortic root dilation or valve dysfunction, etc. It is estimated the prevalence of EDS spectrum may be as high as 1 in 5000.

Rheumatology is generally the specialty most familiar with EDS, but there are certainly providers in other specialties who have specialized in EDS as well. Also, it is not always necessary for a primary doctor to refer for diagnosis, as some types are diagnosed by clinical criteria. If a provider is familiar with when genetic testing is indicated, and which genetic testing to order, it is not necessary for a specialist to do so.

For example, the criteria for hypermobility type EDS (hEDS) is clinical and can be done by a primary care doctor. However, not all primary care doctors are as familiar with the criteria, and may need to pull up an algorithm.

The Ehlers Danlos Society has an amazing wealth of information, including this handout of recommended clinical criteria for hEDS that you can print out and bring with you to your doctor to help facilitate the discussion.

Because of the potential complications of EDS including hEDS, there are a number of preventive measures that are recommended for individuals with EDS based upon the subtype - such as an echo to rule out asymptomatic aortic root dilation or valvular dysfunction (which may be as prevalent as 6%), physical therapy and exercise counseling, counseling on injury prevention, anesthesia considerations, pregnancy risks, genetic reproductive counseling (as some types are autosomal dominant!), etc etc.

The EDS Society publishes a directory of medical professionals who have registered as being experts in EDS. It is obviously not exhaustive, and I cannot vouch for its accuracy, but if you happen to be near one, this directory may be helpful.

References:

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