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Is Hypermobility Associated With Ehlers-danlos Syndrome?
Question: I went to a geneticist today at my. Sinai because my pots doctor thought I could have ehlers danlos syndrome because it would explain my symptoms and that I was hypermobile! When I was examined today they did a clinical evaluation and saw that I was hypermobile but did exhibit much skins symptoms just more significant joint mobility! She assured me that I did not have the vascular type or classical type but said she could not diagnose ehlers danlos hater mobility type because there was no blood test and because She has seen other people with more skin involvement she did not want me to be boxed into a diagnosis in case it was something else but I should be treated as if I do have it! Please explain! I am very confused and tired of not getting simple answers to my many weird symptoms
Revision did not exhibit much skin involvement
Revision did not exhibit much skin involvement
Brief Answer:
Your geneticist has correlated ur case with her experience of cases of EDS
Detailed Answer:
Thanks for asking on HealthcareMagic.
Ehlers-Danlos syndrome is a disease due to a defect in the structure of collagen which is an important constituent of connective tissues, the tissues that support the skin, bones, blood vessels, and other organs. Since these connective tissues do not have the tensile strength hypermobility results. In Ehlers-Danlos, the disease affects multiple systems and the skin involvement as well as the involvement of the blood vessels is quite likely. In your case, since the geneticist did not see these to be as severe as in case of the Ehler-Danlos patients that she has seen, she has thought Ehlers-Danlos to be unlikely and that you should not be boxed with such a diagnosis. The diagnosis of Ehlers-Danlos is generally done clinically although genetic diagnosis can be done.
I understand your apprehension. But let me reassure you that merely presence of hypermobility does not mean Ehlers-Danlos and perhaps you could stop worrying about the hypermobility. It could be simply due to the structure of your joints and tendons. You could ask your geneticist for an explanation of your condition. If still apprehensive, you can get a genetic testing done.
Regards
Your geneticist has correlated ur case with her experience of cases of EDS
Detailed Answer:
Thanks for asking on HealthcareMagic.
Ehlers-Danlos syndrome is a disease due to a defect in the structure of collagen which is an important constituent of connective tissues, the tissues that support the skin, bones, blood vessels, and other organs. Since these connective tissues do not have the tensile strength hypermobility results. In Ehlers-Danlos, the disease affects multiple systems and the skin involvement as well as the involvement of the blood vessels is quite likely. In your case, since the geneticist did not see these to be as severe as in case of the Ehler-Danlos patients that she has seen, she has thought Ehlers-Danlos to be unlikely and that you should not be boxed with such a diagnosis. The diagnosis of Ehlers-Danlos is generally done clinically although genetic diagnosis can be done.
I understand your apprehension. But let me reassure you that merely presence of hypermobility does not mean Ehlers-Danlos and perhaps you could stop worrying about the hypermobility. It could be simply due to the structure of your joints and tendons. You could ask your geneticist for an explanation of your condition. If still apprehensive, you can get a genetic testing done.
Regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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