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I had my genetics appointment today and I scored a 4 out of 9 on the Beighton scale. My thumbs touch my forearm, my pinkies go back, but I couldn’t touch the floor with my hands. However, I was able to touch my hands to the floor before I started doing a lot of squats and deadlifts. My elbows and knees don’t bend back.
The skin on the volar surface of my forearm stretched out 3cm.
I do have easy bruising.
I do not have any cigarette paper scars.
No molluscoid pseudotumors or subcutaneous spheroids.
No delayed motor skills.She did say that I look like I am 12 years old, but I am 26 and will be 27 this year.
The doctor told me that she doesn’t think that I have EDS at this time but is going to schedule me for another appointment in 6 months just to check up on me and see if there is anything new. Ordinarily they don’t see patients a second time if nothing is found and usually patients are children not adults.
She also said that she doesn’t think that EDS would explain all of my other problems like the gastrointestinal issues or POTS. I do have a hiatal hernia which would go towards an EDS diagnose but she thinks maybe the hernia is from something else. She kept saying that it was great that I don’t have EDS because at least I know my organs won’t rupture and I am not getting dislocations all the time.
She was really nice and she said that she did feel really bad for me.
Does anyone have any suggestions or thoughts? I was really hoping that I had EDS just so I could know what caused my POTS. I am bummed out.
The geneticist called me today and we talked some more. She said that she does believe that I have some form of hypermobility but she doesn’t know what to call it since my symptoms don’t fit perfectly into any known diagnostic criteria. With EDS, she feels like I’d be closest to type 3 but I don’t have any history of dislocations. Being thrown in the “Joint Hypermobility garbage can” is the only answer she can provide at this time. She said there are a lot of hypermobility and connective tissue disorders out there that don’t have names yet and she thinks I have one of those. She does think my POTS and GI mobility issues are from the connective tissue issues I have. One more piece added to the puzzle. Yay!
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.
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