Do you refer all patients with a Beighton score over 5 to genetics for further assessment?

Our genetics clinic does not accept these patients for genetic testing anymore because they are inundated with such requests from patients with plain benign joint hypermobility syndrome. They reject these requests for genetic testing. They accept doing genetic testing only for patients with vascular Ehlers Danlos syndrome, i.e., those with vascular laxity, aortic aneurysms, etc., at risk for rupture. Personally, I don't formally do the Beighton score for these patients. I ask them if they can touch their forearm with their thumbs, and if they can then I can tell they have true joint hypermobility. In these patients, I tend to at some point order a baseline echocardiogram to not miss a prolapsed mitral valve or an atrial myxoma.

I agree with Dr. @Dr. First Last. I do try to perform a BEIGHTON score on patients with hypermobility and many patients meet the criteria of BJHS. Benign joint hypermobility syndrome patients have no other concerning clinical or familial factors and they need to be managed with PT, prevention of injury, etc. For those individuals with some family history, skin issues, and CVD risks, I do send for ECHO and consider for Genetics evaluation. In my experience, for hypermobile EDS as there is no genetic testing available the geneticists do not offer any more additional testing. Sometimes they do provide some guidance in regards to long-term medical issues and reproductive counseling.