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Q&A with Australian Health Practitioners
How is Ehlers-Danlos syndrome diagnosed?
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A/Prof Geoff Lester
Physician (General)
A/Prof Geoff Lester is a Melbourne-based consultant physician specialising in vascular, perioperative, internal and aortic medicine. He provides integrated medical care for patients with complex … View Profile
There are 13 subtypes, of which 12 have a genetic mutation that can be diagnosed with genetic testing. The hypermobile EDS does not currently have a diagnosable genetic mutation, but to satisfy current diagnostic criteria, all other 12 EDS subtypes and other connective tissue disorders (e.g., Marfan syndrome) need to be excluded through genetic testing. The remaining criteria need careful MDT assessment with an experienced team.
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