EhlersDanlos

Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The conditions arise from defects in collagen or other components of the extracellular matrix and show wide variation in severity and organ involvement. Most forms are inherited in an autosomal dominant pattern, while a minority are autosomal recessive.

Classification and genetics are complex, with multiple subtypes defined by distinct clinical features and genetic mutations. The hypermobile type (hEDS) is the most common and currently lacks a clearly identified genetic cause. Classical type is typically linked to mutations in COL5A1 or COL5A2. Vascular type is associated with mutations in COL3A1 and carries particular risk of arterial or organ rupture. Other subtypes include kyphoscoliosis type (PLOD1), arthrochalasia types (COL1A1/COL1A2), and dermatosparaxis (ADAMTS2), among additional rare forms. The exact number and classification of subtypes have evolved with advances in genetics and clinical consensus.

Clinical features center on joint instability with recurrent dislocations or sprains, soft and highly elastic skin that bruises easily, and fragile wound healing with atypical scarring. Pain, fatigue, and, in some subtypes, cardiovascular, ocular, dental, or spinal complications may occur. Diagnosis is based on clinical assessment, the Beighton scoring system for joint mobility, family history, and genetic testing when a mutation is known for the subtype.

Management is multidisciplinary and symptom-focused. It emphasizes physical therapy to strengthen supporting muscles and improve joint stability, protective measures to reduce injury, pain management, careful wound care, and lifestyle adjustments. Surgical repair can be complicated by tissue fragility. Genetic counseling is often advised. The prognosis varies by subtype, with more severe forms (such as vascular EDS) carrying higher health risks.