Approximately 50% of individuals with classical EDS have been identified to have a mutation in COL5A1 or COL5A2, which encode alpha and beta chains of type V collagen. There is considerable overlap between the classical and hypermobile forms. The skin changes in hypermobile EDS (hEDS) tend to be less pronounced than in classical EDS (cEDS) although they can overlap with the milder forms of cEDS. Poor wound healing after trauma or surgical intervention is common and a manifestation of tissue fragility. Semin Arthritis Rheum. A complete family history (pedigree) should be obtained when considering a diagnosis of EDS; different family members may be reported to have only some features including chronic fatigue, chronic pain, or fibromyalgia. Home » Decision Support in Medicine » Dermatology. 77. 139C. Schwarze, U, Schievink, WI, Petty, E, Jaff, MR, Babovic-Vuksanovic, D, Cherry, KJ.
The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). “Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV”. Marfan syndrome is caused by mutations in the gene FBN1. Patients with Marfan syndrome also have striae, skeletal involvement (including tall stature, arachnodactyly, dolichostenomelia, scoliosis, anterior chest deformity), and typical facial features (including deep-set down-slanting palpebral fissures, long thin face, with horizontal chin crease and high nose bridge) that do not resemble the face in vascular EDS. vol. “Prevalence of aortic root dilatation in the Ehlers-Danlos syndrome”. Patients with classical EDS have large and small joint hypermobility that often predispose to joint subluxation and dislocation even with little or no trauma. Am J Hum Genet. EDS is variable, therefore management of each patient will vary. ", HMSAware - Marfan syndrome, EDS is not the only 'fruit' of the hypermobility family tree.
“Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV”. –Orthopedic procedures should be postponed in favor of physical therapy and bracing when possible. The average age of the first major arterial or gastrointestinal complication is 23 years. ), Voermans, NC, Knoop, H, Bleijenberg, G, van Engelen, BG. 129-36. Gastrointestinal rupture is rarely a cause of death in these patients, and surgical intervention for the bowel rupture is necessary and generally lifesaving. Sequencing of TNXB, the gene that encodes tenascin X, is currently only available for clinical testing in Spain. The most common forms of EDS, the classical, hypermobile and vascular forms, are inherited in an AD pattern although only 50% of individuals diagnosed with EDS have an affected biological parent. 989-1001. A fully flopped Hannah gets her wriggle on, and an #HMSActive series of videos from our Exercise and Rehab adviser Catherine, there's almost always something you can do, however small - but keep moving #HMSAware, An overview of how some hypermobility syndromes can affect response to local anaesthetics, A sample letter outlining life with a hypermobility syndrome to help loved ones understand. Rare causes of classical EDS, such as mutation in type I collagen, are also discussed. In familial joint hypermobility syndrome the only clinical feature is that of joint hypermobility. The relatively low rate of mutation in individuals with classical EDS emphasizes the heterogeneous nature of the disorder. –In a recent multicenter, randomized trial a β1-androceptor antagonist with a β2-androceptor agonist action has been shown to lower the incidence of arterial dissections and rupture in vascular Ehlers-Danlos syndrome. There are normal bleeding times, von Willebrand factor, platelet number and function, and coagulation studies. vol. In cohorts of patients in which TNXB mutations were identified, the phenotype consisted primarly of joint laxity and soft skin; however, the patients did not have easy bruising or increased skin extensibility. The sites of arterial rupture are the thorax and abdomen (50%), head and neck (25%), and extremities (25%). These patients do not have the dermatologic findings observed in classical EDS, but it is possible that they have a milder form of hypermobile EDS. 2009. pp. Lancet. Sacheti, A, Szemere, J, Bernstein, B, Tafas, T, Schechter, N, Tsipouras, P. “Chronic pain is a manifestation of the Ehlers-Danlos syndrome”. Thanks for visiting Dermatology Advisor. 81. Prenatal genetic testing is available for some of the types of EDS; referral to a prenatal genetics group is necessary for appropriate genetic counseling and testing. Vascular EDS is characterized by thin translucent skin with visible veins, arterial, intestinal and uterine fragility or rupture, extensive bruising, and a characteristic facial appearance (gaunt, prominent eyes, thin nose, and small mouth). N Engl J Med. The diagnostic criteria for hypermobility spectrum disorder (HSD). For patients with a history of prolonged bleeding, referral to a hematologist to test for an unassociated bleeding diathesis and possible treatment may be necessary. 2005. pp. Nuytinck, L, Freund, M, Lagae, L, Pierard, GE, Hermanns-Le, T, De Paepe, A. –Neurally mediated hypotension (POTS): increase sodium and water, beta blockade, fluorocortisone and/or stimulants. Similar to classical EDS, there is no identifiable genotype-phenotype correlation between the type of mutation in COL3A1 and the phenotype in vascular EDS. This should always be considered when surgery of any kind is being considered. Disorders resulting from enzymes that modify collagen are inherited in an autosomal recessive (homozygous or compound heterozygous state) pattern. vol. Deep stitches should be applied generously.
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