Q79.62

Clinical Causes: Genetic mutations affecting the production or structure of collagen, a key component of connective tissue. Inheritance pattern usually follows an autosomal dominant pattern, meaning only one copy of the altered gene can cause the disorder. Certain familial histories indicating a predisposition to joint hypermobility and related symptoms.

Key Symptoms: Excessive joint flexibility, leading to frequent dislocations or subluxations. Chronic joint pain and soft tissue injuries such as sprains or tendon tears. Flexible skin that may be soft or velvety to the touch. Easy bruising and slow wound healing. Muscle fatigue and conditions related to joint instability. In some cases, dental issues like loose teeth or gum problems. Rarely, there may be cardiac or vascular complications, though these are less common in hypermobile EDS compared to other types.

Diagnosis Path: Diagnosis of hypermobile Ehlers-Danlos Syndrome involves a comprehensive clinical assessment, including detailed medical and family histories, and physical examinations focused on joint mobility and skin features. There are no specific laboratory tests for hEDS, but genetic testing can help rule out other types of EDS or connective tissue disorders. Healthcare providers may also use criteria such as the Beighton score to measure joint hypermobility. Due to symptom variability, diagnosis often relies on a combination of clinical features rather than a single definitive test.

Treatment Protocols: Physical therapy to strengthen muscles around hypermobile joints and improve stability. Pain management strategies, such as medications and lifestyle modifications. Use of braces or splints to support unstable joints. Education on joint protection techniques to prevent dislocations and injuries. Monitoring for potentially serious complications, including vascular issues, although these are uncommon in hEDS. Psychological support for coping with chronic pain and physical limitations.