[Concomitant diseases in primary joint hypermobility syndrome]

Area of Science:

• Connective tissue disorders
• Genetics and rare diseases

Background:

• Primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias.
• It shares features with Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta.
• Patients commonly experience joint pain, dislocations, and various extra-articular manifestations.

Purpose of the Study:

• To highlight the importance of recognizing primary joint hypermobility syndrome (pJH).
• To emphasize the need for early identification of potentially life-threatening complications.
• To stress the significance of screening for features of MFS and EDS in pJH patients.

Main Methods:

• This study is a review of the clinical features and implications of primary joint hypermobility syndrome (pJH).
• It synthesizes information on the overlap between pJH and other connective tissue disorders.
• Focuses on identifying critical and life-threatening manifestations.

Main Results:

• pJH presents with arthralgia, back pain, dislocations, and extra-articular signs like striae, keratoconus, and mitral valve prolapse.
• Life-threatening complications include aortic root dilatation, aneurysms, and pneumothorax.
• Early recognition is vital due to the risk of dissection and rupture.

Conclusions:

• Primary joint hypermobility syndrome (pJH) requires comprehensive evaluation beyond joint symptoms.
• Screening for cardiovascular and other severe manifestations associated with MFS and EDS is essential.
• Prompt diagnosis and monitoring can mitigate risks of critical complications in pJH patients.