Because it might help someone else out who reads through the post, I am going to post the print out that my doctor sent me and my PCP.
Patient was referred for initial genetic evaluation of joint hypermobility, particularly Ehlers Danlos Syndrome (EDS). There are several types of EDS with the classic type being a connective-tissue disorder characterized by skin hyperextensibilty, abnormal wound healing, and joint hypermobility. EDS hypermobility type (type III) is characterized by joint laxity with soft skin and easy bruisin, but other organ systems (especially gastrointestinal and cardiovascular) are frequently involved. It is distinguished from EDS, classic type, by the more significant skin and soft tissue manifestations in the classic type. As patient did not have widened atrophic scars or delayed wound healing, we were more concerned about EDS type III. However, patient’s Beighton score was 4/9 was not indicative of EDS which requires Beighton score of > or = to 5/9 for diagnose. We do believe that patient has a joint hypermobility syndrome and meets diagnostic criteria for benign joint hypermobility syndrome (BJHS). The major criteria for BJHS include a Beighton score of > or = to 4/9 and arthralgia for greater than 3 months in greater than 4 joints. Recent reports in the literature have commented on the phenotypic similarities between EDS joint hypermobility type and BJHS. Patient has many of the findings associated with EDS type III including POTS and gastrointestinal involvement (GERD and gastroparesis). Based on patient’s examination and medical history, we believe that she may have a phenotype that lies between BJHS and EDS type III. Thus, we feel that patient would benefit from the same surveillance criteria used for EDS hypermobility type which include:
1. DEXA scans every other year if bone loss is confirmed.
2. Echocardiogram every 5 years in adults with normal aortic root diameter.
And then a list of things to avoid to keep from messing up my joints and things to increase bone density.
Height: 156.4 cm (15th percentile)
Weight: 40.7 kg (<3rd percentile)
Head Circumference: 51.3 cm (1st percentile)
It does say within the report that my skin was smooth and velvety and she recorded that my skin stretched 2 cm on the volar surface of my forearm, instead of 3 cm that I thought she said.