Familial articular hypermobility syndrome

Familial articular hypermobility syndrome, also known as familial joint hypermobility syndrome or benign joint hypermobility syndrome, is a heritable connective tissue disorder characterized by generalized joint hypermobility that runs in families. It is classified under the broader spectrum of hypermobility spectrum disorders and shares clinical overlap with hypermobile Ehlers-Danlos syndrome (hEDS), though it is considered a distinct entity primarily affecting the musculoskeletal system. The condition manifests as an excessive range of motion in multiple joints, often assessed using the Beighton scoring system. Affected individuals may experience recurrent joint dislocations or subluxations, chronic joint and musculoskeletal pain, soft tissue injuries, and early-onset osteoarthritis. Some patients also report skin hyperextensibility (though typically milder than in classical Ehlers-Danlos syndrome), easy bruising, and chronic fatigue. The musculoskeletal complaints can significantly impact quality of life and daily functioning. There is currently no cure for familial articular hypermobility syndrome. Management is primarily supportive and symptomatic, focusing on physical therapy and targeted exercise programs to strengthen muscles around hypermobile joints, thereby improving joint stability and reducing pain. Pain management strategies may include analgesics, anti-inflammatory medications, and in some cases cognitive behavioral therapy for chronic pain. Occupational therapy can help with joint protection strategies and adaptive techniques for daily activities. Surgical intervention may occasionally be considered for recurrent joint dislocations, though outcomes can be less predictable in individuals with connective tissue laxity. Genetic counseling is recommended for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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