CACP syndrome and PRG4 mutation

Area of Science:

• Genetics and Molecular Biology
• Rheumatology and Immunology
• Cardiology

Background:

• Camptodactyly-arthropathy-coxa vara-pericarditis (OMIM 250400) syndrome is a rare autosomal recessive disorder.
• It is characterized by progressive joint contractures, coxa vara, and pericardial effusions leading to constrictive pericarditis.
• Diagnosis is often delayed due to the rarity and variable presentation of the syndrome.

Purpose of the Study:

• To report a unique case of late-onset camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
• To highlight the diagnostic challenges associated with this rare condition.
• To consolidate and review the existing literature on camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Main Methods:

• Case report of a patient diagnosed in adulthood.
• Comprehensive literature review of previously reported cases.
• Analysis of clinical presentation, diagnostic findings, and management strategies.

Main Results:

• The patient presented with constrictive pericarditis as the initial manifestation in adulthood.
• Late diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis syndrome was confirmed.
• Literature review identified limited case studies, emphasizing the syndrome's rarity and diverse clinical spectrum.

Conclusions:

• Constrictive pericarditis can be a presenting feature of camptodactyly-arthropathy-coxa vara-pericarditis syndrome in adults.
• Increased awareness and consideration of this syndrome are crucial for timely diagnosis.
• Further research is needed to understand the pathophysiology and long-term outcomes.