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Ehlers-Danlos Support UK
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Suspected Hypermobility syndrome

Good morning all

This is the first time I have posted on this site. Today in the post I received the letter from the rheumatologist headed ‘suspected hypermobility syndrome’. I’m confused does this constitute a proper diagnosis?

As I look further into the letter there is a summary of some measurements height to arm span ratio which I’ve found out with help from google relate to something called ‘Marfan Syndrome’. It would appear I’ve missed out on the diagnostic criteria by a couple of cm. Don’t know if this is correct cos it was a performance with me holding one end of the tape measure between bent fingers and the tape measure going floppy also? As I read further through there is great emphasis in my denying heart problems- well I’ve never been diagnosed with any and further mention of the whites of my eyes being blue(googled again anaemia or Marfan syndrome).

As I’ve now been discharged from the clinic I feel I have no where to go with this. In fact do I need to, to be on the safe side....

I went to get a confirmation that I had hypermobility but now feel confused. I’m wondering if anyone else has any experience of ‘Marfan Syndrome’ can you have without signs of heart trouble? I’d hate to think I was living with a time bomb that I then go on to ignore...

Thank you for reading my post.

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You could return to your GP with your letter and ask to be referred to the specialist clinic of dr Denton in London?

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Marfan characteristics can be and often are present in people with hypermobility spectrum disorder or hEDS, without the heart issues that would indicate Marfan syndrome itself. I've got some of them I think (I have hsd which is the new term for hypermobility syndrome as the rheumatologist should know!) And also an aunty and some cousins (on the side of the family down which I inherited hsd) have Marfan characteristics to a greater extent although their joint hypermobility is not even symptomatic.

I believe if they were concerned about Marfan syndrome there is a test they can do, unlike with hEDS. If you don't have any symptoms and there have been no history of heart problems in your family I would try not to worry. Heart problems can also be an issue in hEDS too (often not) which might be why they mentioned it and some people get referred to cardiology if they are symptomatic (like have a murmur or something I think)

I can understand you wanting a definitive diagnosis though, they should not be giving out an out of date diagnosis of hypermobility syndrome (although that is what I was given by my gp last year while waiting to get a proper diagnosis). The diagnostic criteria and terms etc all changed at the beginning of 2017 I think it was, or poss slightly earlier.

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Thanks jpain, these disorders are so complicated it’s a lot to take in at the moment

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Thanks jpain, these disorders are so complicated it’s a lot to take in at the moment

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When we were trying to eliminate the possibility of Marfans, my son's paediatrician sent him to an opthamologist to check for lens dislocation and the cardiologist to check his heart. When those were clear he was given the diagnosis of EDS.

I agree, you should go back to your GP and explain that you are not happy with the outcome and what to know for sure that you don't have Marfan.

You might want to take the link to the RCGP EDS toolkit to your GP. Sometimes they will listen to their own but they won't listen to a patient.

rcgp.org.uk/clinical-and-re...

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Thankyou cyberbarn the GP testing kit is really useful I didnt know about that.

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Hi Jan. I saw one NHS rheumatologist who wrote at length about my hypermobility without giving a 'proper' diagnosis. I had to do my homework and piece the puzzle of my symptoms together. My son had similar problems. So after researching the best rheumatologist specialist in hypermobility/ EDS, I booked our appointments. We were both diagnosed with hEDS - hypermobile EDS..

Because of my sons tall, very slim build -unlike mine- he was measured in a similar way to the one you describe. Not all his measurements fit the mafans criteria, but in his diagnosis it said he had certain mafanoid traits..

As we both had cardiovascular symptoms, we were later sent for heart investigations. With hEDS there is a chance of mitral valve prolapse. Fortunately We didn't have this, but Autonomic dysfunction, tachycardia and ectopic beats to add to the list.

You dont say who you saw, but I'm guessing they had some good knowledge to have even known to check for mafans?..In my ten+ years of Doctors and general rheumatology consultations prior to my hEDS diagnosis, and my sons for 15 years, not one recognised our symptoms.. As has already been said, you should get another appointment for clarification and also to have your related symptoms of hypermobility examined further, as it could be HSD- hypermobility spectrum disorder- or hEDS if you have other symptoms along with being hypermobile. A specialist with knowledge of EDS will be able to diagnose these.. The new EDS toolkit has all the info to help your medical professional.

Best wishes xx

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