How is EDS diagnosed?
Ehlers-Danlos syndrome is traditionally diagnosed through physical examination. An exam for diagnosis of EDS probably will include testing skin for what it feels like and how much it stretches; the Beighton Score or the newer Brighton Score for testing hypermobility examining medical history to determine if EDS symptoms have been exhibited in the past; and whether EDS is in the family. An initial examination might also include an echocardiogram if heart or vascular issues are suspected, and other tests depending on the patient’s symptoms.
Diagnosis of type comes by finding the EDS type that most matches the patient’s symptoms. The process is relatively straightforward. Match the patient’s signs and symptoms to the major and minor criteria, and identify the type that is the most complete fit. There are cases in which multiple collagen genes are found in genetic testing to be mutated, but clinically, since EDS is still diagnosed through clinical signs, the type that has the most matches to symptoms would be the type diagnosed as primary. This may change, of course as the current diagnostic system was established in 1997.
Genetic testing is available for most types of EDS, although not for the most common type, Hypermobility. The tests vary in accuracy; in most cases genetic testing should be used conservatively to confirm a diagnosis rather than to rule one out.
Anyone who can examine a patient and diagnose a disease can assess for EDS; a specialist is not required and the diagnostic criteria can be found here. Often, however, patients are referred to geneticists, who may be better equipped to handle any genetic laboratory work and have information more current than the 1997 classifications contain.