Hypermobility syndromes from the clinician's perspective: an overview

Area of Science:

• Rheumatology
• Genetics
• Clinical Medicine

Background:

• Symptomatic generalized hypermobility is a common condition encountered by rheumatologists and other medical specialists.
• A subset of patients may have a specific hypermobility syndrome requiring further classification.
• Diagnosis relies on pattern recognition and understanding the spectrum of hypermobility syndromes.

Purpose of the Study:

• To highlight the importance of recognizing specific hypermobility syndromes.
• To outline diagnostic clues for identifying these syndromes.
• To emphasize the need for timely diagnosis, particularly for syndromes with life-threatening complications.

Main Methods:

• Diagnostic clues include patient and family history.
• Physical examination findings, including skin abnormalities, are crucial.
• Genetic testing is considered when pretest probability for specific syndromes is high, especially those with severe outcomes.

Main Results:

• Pattern recognition and clinical assessment are key to diagnosing hypermobility syndromes.
• Identifying syndromes with potentially life-threatening complications is critical.
• Genetic testing is reserved for specific indications with reasonable pretest probability.

Conclusions:

• Management of most hypermobility syndromes is symptomatic.
• Education and physical exercises are the cornerstones of management.
• Joint surgery should generally be avoided in the management of hypermobility syndromes.