Monday, August 6, 2012

Hypermobility - is it 'normal'?

9pointscale.jpgOne of the most underdiagnosed conditions are the family of genetic disorders which affect collagen, the proteins which form the skin, ligaments and tendons, blood vessels and other structural body parts.

But is it even a disorder?  It's thought to affect 10-20% of Western populations and is even more common in people of Indian, Chinese and Middle Eastern origin.

Ehlers-Danlos Syndrome (Marfans Syndrome is related but somewhat unique) occupies the extreme end of what is becoming accepted as a spectrum of collagen synthesis disorders.  The most common is Familial Joint Hypermobility Syndrome in which the most obvious trait is the ability to 'contort' the joints (see scale at left).  At the other 'end' of this spectrum individuals display traits which simply blend into the population norm.
Being a disorder of collagen formation individuals can also display vascular fragility, dislocate joints easily, be prone to uterine prolapse and typically suffer from diffuse musculoskeletal pain. There is a tendency towards joint degeneration and osteoporosis as well.
Although common it is still not widely understood even by many health practitioners.  Indeed like fibromyalgia it will usually go undiagnosed for years. Furthermore the various labels including Benign Joint Hypermobility imply mild, non-progressive conditions (as opposed to the full blown ED syndrome). Coupled with a perceived lack of a definitive diagnosis and specific pharmacological or surgical treatments it is easy to see why this family of disorders can be so common yet so misunderstood.

Fibromyalgia can also present as diffuse musculoskeletal pain which is why it is so important to ask questions regarding family members (siblings and children).  It is this line of enquiry that often yields valuable information in making the correct diagnosis and as a result being able to appropriately treat and advise.  After all this is a characteristic of the person as a whole, not simply a collection of unrelated injuries as it so often appears to be.

Douglas Scown

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