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Ehlers-Danlos syndrome; cutis elastica (EDS)

A disorder characterized by hyperelasticity of the skin & hypermobile joints. Classification: 1) type 1, classic, severe form of disease 2) type 2, similar to type 1, but milder 3) type 3, joint hypermobility more prominent than skin changes 4) type 4, skin changes more prominent that joint hypermobility 5) type 5, similar to tyepe 2, but X-linked inheritance 6) type 6, scoliosis, ocular fragility, keratoconus 7) type 7, difficult to distinguish from type 3 8) type 8, periodontal changes 9) type 9, biochemical classification 10) type 10, biochemical classification 11) type 11, biochemical classification 12) Ehlers-Danlos syndrome progeroid variant 13) Ehlers-Danlos syndrome musculocontractural type 14) vascular Ehlers-Danlos syndrome [3] Epidemiology: 1) estimate of 1 in 5000 live births 2) types 1, 2 & 3 most common Pathology: 1) myxomatous change of the mitral valve is common a) leaflet thickening b) chordal elongation c) spontaneous chordal rupture d) annular enlargement with mitral regurgitation e) increased risk of endocarditis 2) arterial dilatation & rupture Genetics: - associated with defects in type-1 collagen, type-3 collagen, type-5 collagen (classic) - 90% of genes that cause hypermobile Ehlers-Danlos syndrome are unknown Physical examination: - bent thumb can reach forearm - little finger can extend to form 90-degree angle with back of hand - can place hands flat on floor without bending knees - can do splits [5] Clinical manifestations: 1) classic type a) wide range of disease severity b) many patients may not seek medical attention c) musculoskeletal - joint laxity, hypermobility of joints - severity varies from mild to unreducible dislocations of large joints - patients often learn to reduce joint dislocations themselves - early osteoarthritis - scoliosis, pes planus - musculoskeletal pain d) velvety skin [3] - thin, hyperextensible skin, mild laxity, easily torn or scarred - delayed wound healing with atrophic scarring [3] - easy bruising e) cardiovascular - mitral valve prolapse - tricuspid valve prolapse [3] - aortic root dilation (rare) [3] - arterial rupture (rare) [3] f) hernia 2) vascular Ehlers-Danlos syndrome a) arterial fragility b) thin, translucent skin c) vascular aneurysms, arterial dissection, vessel rupture d) arteriovenous fisutlas e) intestinal perforation f) uterine rupture (especially during pregnancy) Special laboratory: - echocardiogram/aortic ultrasound - annual screening for thoracic aortic aneurysm [3] Diagnostic criteria: - see Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome [5] Differential diagnosis: - Marfan syndrome Management: 1) endovascular repair of ascending thoracic aortic aneurysm 4.5-5.0 cm [3] 2) surgical repair & tightening of joint ligaments with caution - ligaments frequently do not hold sutures 3) endocarditis prophylaxis for mitral valve disorder 4) preconception genetic counseling

Specific

Ehlers-Danlos syndrome cardiac valvular form (EDSCV) Ehlers-Danlos syndrome musculocontractural type Ehlers-Danlos syndrome progeroid variant (familial joint instability syndrome) Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos) Ehlers-Danlos syndrome type II (mild classic form) Ehlers-Danlos syndrome type III (benign hypermobility form) Ehlers-Danlos syndrome type IV (arterial, ecchymotic or Sack type) Ehlers-Danlos syndrome type V, X-linked Ehlers-Danlos syndrome type VI Ehlers-Danlos syndrome type VII Ehlers-Danlos syndrome type VIII Ehlers-Danlos syndrome type X, with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome type XI (familial joint instability syndrome)

General

genetic disease of connective tissue

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  3. Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  4. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. PMID: 18328988
  5. The Ehlers-Danlos Society hEDS Diagnostic Checklist https://www.ehlers-danlos.com/heds-diagnostic-checklist/ https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf
  6. Genetics Home Reference: Ehlers-Danlos syndrome https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome