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Updated: Jun 16 2021

Ehlers-Danlos Syndrome

Images skin hyperextensibility (2).jpg small finger dorsiflexion.jpg thumb apposition.jpg radiograph bilateral feet.jpg
  • summary
    • Ehlers-Danlos Syndrome is a congenital connective tissue disorder most commonly caused by a variety of mutation in collagen forming genes. Patients present with joint hypermobility, generalized ligamentous laxity, scoliosis, fragile skin, and cardiovascular abnormalities. 
    • Diagnosis is made by collagen typing in a skin biopsy.
    • Treatment is usually physical therapy, orthotics, and supportive measures for pain. Surgical management is indicated for progressive scoliosis or progressive joint pain not responsive to non-operative management.
  • Etiology
    • Genetics
      • COL5A1 or COL5A2 mutation in 40-50%
        • gene for type V collagen
          • important in proper assembly of skin matrix collagen fibrils and basement membrane
      • less common mutations identified below
    • Associated conditions
      • Connective tissue disorder characterized by
        • hyperelastic/fragile skin
        • joint hypermobility and dislocation
        • generalized ligamentous laxity
        • poor wound healing
        • early onset arthritis
        • additional features
          • soft tissue and bone fragility
          • soft tissue calcification
          • mitral valve prolapse
          • aortic root dilatation
          • developmental dysplasia of the hip
          • clubfoot
          • pes planus
          • scoliosis
          • high palate
          • gastroparesis
  • Classification
    • Berlin Classification (1988) - revised
      • Types I - XI exist
        • Types II and III - most common and least disabling
    • Villefranche Classification (1998)
      • Villefranche Classification 
      • New name
      • Features
      • Former name
      • Classical
      • Autosomal dominant
      • Hyperextensible skin, widened atrophic scars, joint hypermobility
         COL5A1 or COL5A2 mutation; type V collagen (co-expressed with type I collagen)
      • Type I (gravis), Type II (mitis)
      • Hypermobile
      • Autosomal dominant
      • Large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain, scoliosis
      • Unknown mutation
      •  Type III
      • Vascular
      • Autosomal dominant
      • Translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising
      • COL3A1 mutation; abnormal type III collagen
      • Type IV
      • Kyphoscoliosis 
      • Autosomal recessive
      • Severe hypotonia at birth, generalized joint laxity, progressive infantile scoliosis, scleral fragility may lead to globe rupture
      • Mutation in PLOD gene; lysyl hydroxylase deficiency (enzyme important in collagen cross-linking)
      • Type VI (ocular scoliotic)
      • Arthrochalasis
      • Autosomal dominant
      • Bilateral congenital hip dislocation, severe joint hypermobility, skin hyperextensibility
        Deletion of type I collagen exons encoding N-terminal end of COL1A1 or COL1A2
      • Type VIIA, VIIB
      • Dermatosparaxis -
      • Autosomal recessive
      • Severe skin fragility and substantial bruising, sagging or redundant skin
      • Mutation in ADAMTS2 gene; type I procollagen N-terminal peptidase deficiency
      • Type VIIIC
  • Presentation
    • Symptoms
      • double-jointedness
      • easily damaged, bruised, & stretchy skin
      • easy scarring & poor wound healing
      • increased joint mobility, joint popping, early arthritis
        • especially shoulders, patellae, ankles
      • chronic musculoskeletal pain (50%)
    • Physical exam
      • a score of 5 or more on 9-point Beighton-Horan scale defines joint hypermobility ; however this threshold varies in the literature
        • passive hyperextension of each small finger >90° (1 point each)
        • passive abduction of each thumb to the surface of forearm (1 point each)
        • hyperextension of each knee >10° (1 point each)
        • hyperextension of each elbow >10° (1 point each)
        • forward flexion of trunk with palms on floor and knees fully extended (1 point)
  • Imaging
    • Radiographs
      • look for joint dislocations/subluxations
      • kyphoscoliosis
    • Echocardiogram
      • cardiac evaluation with echo is mandatory in the workup
      • up to 1/3 of patients have aortic root dilatation
  • Labs
    • Diagnosed by collagen typing of skin biopsy
  • Treatment
    • Nonoperative
      • physical therapy, orthotics, supportive measures for pain
        • indications
          • mainstay of treatment
    • Operative
      • arthrodesis
        • indications
          • joints recalcitrant to non-operative management
        • technique
          • soft tissue procedures are unlikely successful in hypermobile joints
      • posterior spinal fusion
        • indications
          • progressive scoliosis (most common in Kyphoscoliosis Type)
        • technique
          • longer fusions needed to prevent junctional problems
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