Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders causing skin hyperextensibility, joint hypermobility, and tissue fragility from defective collagen synthesis or cross-linking. The hypermobile type is by far the most common and has no confirmatory genetic test; the vascular type, from a COL3A1 collagen defect, is the form that kills through spontaneous arterial, bowel, and uterine rupture, and drives beta-blockade, vascular surveillance, and avoidance of arteriography and elective surgery.
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What this article covers
- Overview
Definition: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by mutations in genes encoding collagen or the enzymes that process it, producing poorly functional…
- Epidemiology
Hypermobile type dominates: it is the most common of the EDS subtypes.
- Risk factors
Family history: autosomal dominant inheritance in the hypermobile, classical, and vascular types means a first-degree relative confers substantial risk; a child of a parent with classical EDS has a 50 percent chance of inheriting the gene.
- Pathophysiology
Collagen synthesis and cross-linking underlie tissue strength: procollagen chains are translated, hydroxylated, secreted, and cross-linked extracellularly by lysyl oxidase into mature fibers; a…
- Clinical features
Hypermobile type (hEDS), the most common: generalized joint hypermobility with recurrent dislocations and subluxations, joint instability, musculoskeletal pain, and early osteoarthritis; skin is only…
- Differential diagnosis
Marfan syndrome (see marfan-syndrome): shares joint hypermobility and aortic risk, but tall stature with arm span exceeding height, arachnodactyly, and upward lens dislocation from a fibrillin-1…
- Diagnosis
What establishes the diagnosis: the hypermobile type is a clinical diagnosis, generalized joint hypermobility with instability and pain plus only mild skin findings and a compatible family history…
- Management
First action for every subtype: confirm the subtype (clinical pattern versus targeted genetic testing), since the vascular type changes the entire plan, and arrange genetic consultation.
- Complications
Vascular type: arterial rupture, aneurysm, and dissection of medium-size arteries, the most feared complication, plus bowel rupture (sigmoid colon most often) and uterine rupture in pregnancy.
- Prognosis
Hypermobile and classical types: generally compatible with a normal lifespan; morbidity comes from chronic joint instability, pain, and skin fragility, and treatment stays supportive because there is no cure.
- Prevention
Genetic counseling before conception: offered to all patients and at-risk relatives given autosomal dominant inheritance in the hypermobile, classical, and vascular types and autosomal recessive inheritance in the kyphoscoliotic type.
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