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Ehlers-Danlos Syndrome

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Topic updated on 04/15/16 1:46pm
Introduction
  • 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
  • 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
Classification
  • Berlin Classification (1988) - revised
    • Types I - XI exist
      • Types II and III - most common and least disabling
  • Villefranche Classification (1998)
    • Classical - Type I (gravis) and Type II (mitis)
      • autosomal dominant
      • hyperextensible skin, widened atrophic scars, joint hypermobility
      • COL5A1 or COL5A2 mutation; type V collagen (co-expressed with type I collagen)
    • Hypermobility - Type III (hypermobile)
      • autosomal dominant
      • large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain, scoliosis
      • unknown mutation
    • Vascular - Type IV (vascular)
      • autosomal dominant, rarely autosomal recessive
      • translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising
      • COL3A1 mutation; abnormal type III collagen
    • Kyphoscoliosis - Type VI (ocular scoliotic)
      • 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)
    • Arthrochalasis - Type VIIA, VIIB
      • 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 
    • Dermatosparaxis - Type VIIIC
      • autosomal recessive
      • severe skin fragility and substantial bruising, sagging or redundant skin
      • mutation in ADAMTS2 gene; type I procollagen N-terminal peptidase deficiency
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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Qbank (2 Questions)

TAG
(OBQ12.208) For which of the following conditions would a physician use the Beighton-Horan scale during the physical examination of a patient? Topic Review Topic

1. Cerebral palsy
2. Ehlers-Danlos
3. Myelodysplasia
4. Arthrogryposis
5. Kniest's dysplasia

PREFERRED RESPONSE ▶
TAG
(OBQ05.232) Which of the following are findings not associated with Ehlers-Danlos syndrome? Topic Review Topic

1. Superior lens dislocation of the eye
2. Joint hypermobility
3. Skin hyperelasticity
4. Pathologic defect of collagen
5. Poor wound healing

PREFERRED RESPONSE ▶



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