When should I consider referring a patient with joint hypermobility to a specialist for further evaluation?

Consider referring a patient with joint hypermobility to a specialist for further evaluation if any of the following are present:

• Presence of red flag features or diagnostic uncertainty about the cause of hypermobility NICE CKS.
• Severe hypermobility significantly impacting daily activities and mobility, such as recurrent subluxation or dislocation NICE CKS.
• Symmetrical joint involvement or acute single-joint soft-tissue injury from repetitive strain NICE CKS.
• Fine motor difficulties, fatigue, or hand pain during functional tasks like handwriting or playing musical instruments NICE CKS.
• Signs suggestive of connective tissue disorders with cardiovascular, respiratory, or ocular involvement (e.g., features of Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta) NICE CKS.
• Physical signs such as thin, translucent skin, lack of subcutaneous fat, easy bruising, or family history of sudden early death from aortic aneurysm or spontaneous arterial rupture, indicating possible vascular Ehlers-Danlos syndrome NICE CKS.
• Symptoms that do not improve with rest and are associated with stiffness or 'gelling', suggestive of an inflammatory condition NICE CKS.

Referral is usually to a paediatric rheumatology clinic or an appropriate specialist depending on local pathways NICE CKS. In adults, referral to rheumatologists or other musculoskeletal specialists is appropriate when diagnosis is uncertain or when inflammatory or connective tissue disorders are suspected NICE CKS,NICE NG65.

Additionally, literature emphasizes the importance of specialist assessment in children with ligamentous laxity when symptoms are severe or atypical, to exclude underlying systemic or genetic conditions and to guide management Agnew 1997.

In summary, referral should be considered when hypermobility is symptomatic, severe, associated with systemic features, or when there is diagnostic uncertainty, to ensure appropriate specialist evaluation and management.