Diagnosis in Australia
Of the 13 subtypes of Ehlers-Danlos Syndrome, twelve have had their genetic basis found and therefore can be diagnosed via genetic testing. The most common type, Hypermobile EDS (hEDS), has yet to have a genetic basis found and is diagnosed via clinical diagnosis.
In Australia, genetic testing is done by a specialist doctor called a Geneticist. To see a geneticist you will need to obtain a specialist referral from your General Practitioner (GP) or treating specialist. A geneticist will review you and your family's medical histories. They will also consider other medical disorders that they may test for that might account for your presenting symptoms. You can see a Geneticist through both the public and Private medical systems in Australia. There is generally a waiting list to see a geneticist in the public system. One can elect to see a Geneticist privately, where the waitlist is commonly shorter. However, the appointment and testing will all be out of pocket with some genetic testing costing a few thousand dollars. The different genes which identify the types have been listed here. It has been noted in a few states that public Genetics clinics no longer see patients referred based on symptoms that suggest hEDS only and require the referral to show the patient has symptoms from one of the other EDS types. This is due to the fact that there is no genetic test available for hEDS currently and the limited spaces in public Genetics Clinics.
hEDS is a clinical diagnosis currently while but there is research currently being undertaken to try and identify the genetic markers to test for hEDS. Rheumatologists specialising in Ehlers-Danlos Syndrome are the most common specialist seen to diagnose hEDS. Some General Physicians are also becoming trained to diagnose and treat EDS. Private Genetics clinics are an option with some states public genetics clinics still willing to take referrals for patients where symptoms only correlate with hEDS.
With specialists referrals in Australia when it is written by a GP the referral last 12months. When specialists are referring to another specialist this will only last 3months.
The clinical diagnosis of Hypermobile EDS is done by physical examination in conjunction with your personal and family medical history. The EDS society has a PDF available here and posted to the right which covers their diagnostic criteria for hEDS. There is some debate over the diagnostic criteria and more work needs to be done. Hopefully a genetic test will be available soon to make testing far more specific.
The most common test to see Generalised Joint Hypermobility (GJH) which is part of most diagnostic criteria for EDS types is the Beighton Scale. Historically this was used as the main diagnosis of Hypermobile EDS type where a score of 5/9 or more was required. This along does not meet the criteria for diagnosis and is just the first criteria. These movements and other "party tricks" are not recommended to done frequently as they can cause pain and damage to the joint. Caution is recommended and it's best only done with a health professional present.
HEDS Diagnostic Criteria Checklist - EDS Society
Beighton Scale: 1. Pull little finger back and beyond 90° (one point for each side), 2. Pull thumb back to touch forearm (on point for each side), 3. Bend elbow backwards beyond 10° (one point for each side), 4. Bend knee backwards beyond 10° (one point for each side), 5. Lie hands on the floor while keeping knees straight and bending at the waist.