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 impacting daily activities and mobility, such as frequent subluxations or dislocations 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., Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta) NICE CKS.
• Physical features 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', suggesting 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 may be appropriate if the diagnosis is uncertain or if there are features suggestive of inflammatory arthritis or connective tissue disease NICE CKS,NICE NG65.

Additionally, difficulty with handwriting related to hypermobility without musculoskeletal cause may warrant neurological assessment to exclude focal dystonia or other neurological conditions NICE NG127.

Overall, children or adults with asymptomatic joint hypermobility do not require referral but should be advised on normal physical activity and to return if symptoms develop NICE CKS.

This approach aligns with expert evaluations of ligamentous laxity, which emphasize referral when hypermobility is symptomatic, functionally impairing, or associated with systemic features Agnew 1997.