We’ve all seen people who can bend their bodies into a pretzel. It’s a neat parlor trick, but somewhere inside we cringe. That can’t be good for you.
Turns out it isn’t. A number of these people have a variation on Ehlers-Danlos Syndrome, which leaves them open to severe muscle and joint pain as their bodies fail to tighten properly. A sub-group of them may have vascular problems, including ruptures of their major blood vessels, which is exactly as bad as it sounds.
The most horrible part is that many people with this disorder aren’t diagnosed by their doctors. Most doctors aren’t taught that there are different types of Ehlers-Danlos. We don’t have good testing for many of the sub-types to even confirm the diagnosis beyond clinical observations. And we are woefully poor at treating these conditions. Below is a selection of medical abstracts. If you have a friend or a loved one who is really “double-jointed” and bruises very easily, take some time to at least Wiki Ehlers-Danlos. You might save their life, or at least give them some context to why they hurt the way they do.
Clin Genet. 2012 Feb 21. doi: 10.1111/j.1399-0004.2012.01858.x. [Epub ahead of print]
The Ehlers-Danlos Syndrome, a disorder with many faces.
De Paepe A, Malfait F.
Centre for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
The Ehlers-Danlos Syndromes comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes 6 subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins. Mutations in type V and type III collagen cause classic or vascular EDS respectively, while mutations involving the processing of type I collagen are involved in the kyphoscoliosis, arthrochalasis and dermatosparaxis type of EDS. Establishing the correct EDS subtype has important implications for genetic counselling and management and is supported by specific biochemical and molecular investigations. Over the last years, several new EDS variants have been characterized which call for a refinement of the Villefranche classification. Moreover, the study of these diseases has brought new insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion and assembly of extracellular matrix proteins.
© 2012 John Wiley & Sons A/S.
Br J Haematol. 2004 Dec;127(5):491-500.
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
De Paepe A, Malfait F.
Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. firstname.lastname@example.org
Easy bruising and bleeding are not only characteristic manifestations of clotting and platelet disorders, they are also prominent features in some heritable collagen disorders, such as the Ehlers-Danlos syndromes (EDS). The EDS comprise a heterogeneous group of connective tissue diseases sharing clinical manifestations in skin, ligaments and joints, blood vessels and internal organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens type I, III and V, or in genes coding for enzymes involved in the post-translational modification of these collagens. Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. Extensive bruising, spontaneous arterial rupture, leading to severe internal bleeding or premature death, and rupture of hollow organs, such as the intestine or the gravid uterus are predominant features of this subtype. Haematological studies including evaluation of clotting factors, platelet aggregation and bleeding time are usually normal in patients with EDS, except for the Hess test (Rumple-Leede test), which may be abnormal, indicating capillary fragility. In some forms of EDS confirmation of the clinical diagnosis and subtype is possible with biochemical and molecular studies.
Ehlers-Danlos Syndrome, Hypermobility Type .
In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors.
2004 Oct 22 [updated 2010 Dec 14].
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations or advanced osteoarthritis, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common.
The diagnosis of EDS, hypermobility type is based entirely on clinical evaluation and family history. In most individuals with EDS, hypermobility type, the gene in which mutation is causative is unknown and unmapped. Haploinsufficiency of tenascin X (encoded by TNXB) has been associated with EDS, hypermobility type in a small subset of affected individuals. Testing for TNXB mutations is available on a limited clinical basis.
Treatment of manifestations: Physical therapy tailored to the individual; assistive devices (braces to improve joint stability; wheelchair or scooter to offload stress on lower-extremity joints; suitable mattress to improve sleep quality); pain medication tailored to symptoms; appropriate therapy for gastritis/reflux /delayed gastric emptying/irritable bowel syndrome; possible beta-blockade for progressive aortic enlargement; psychological and/or pain-oriented counseling. Prevention of primary manifestations: Low-resistance exercise to increase muscle tone for improved joint stability; appropriate writing utensils to reduce finger and hand strain. Prevention of secondary complications: Calcium, vitamin D, low-impact weight-bearing exercise to maximize bone density. Surveillance: DEXA every other year if bone loss is confirmed. Agents/circumstances to avoid: Joint hyperextension; resistance/isometric exercise can exacerbate joint instability and pain; high-impact activity increases the risk of acute subluxation/dislocation, chronic pain, and osteoarthritis; cautious use of crutches, canes, and walkers, which put increased stress on the upper extremities.
EDS, hypermobility type is inherited in an autosomal dominant manner. Most individuals diagnosed with the syndrome have an affected parent. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with EDS, hypermobility type has a 50% chance of inheriting the disorder. Prenatal testing is not available.
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