[Familial Mediterranean fever (paroxismal polyserositis, familial recurring polyserositis, periodic disease)]

Area of Science:

• Genetics and Molecular Biology
• Immunology
• Rare Diseases

Context:

• Paroxismal polyserositis is an orphan disease primarily affecting Mediterranean populations.
• It stems from a mutation on chromosome 16, resulting in a pyrine synthesis disorder.

Purpose:

• To describe the clinical presentation and genetic basis of paroxismal polyserositis.
• To outline effective treatment strategies and potential complications.

Summary:

• Characterized by recurrent aseptic inflammation of serous membranes (especially peritoneum), fever, and spontaneous recovery between attacks.
• Secondary amyloidosis of internal organs can occur due to inadequate or excessive treatment.
• Daily colchicine (1-1.5 mg) is the most effective therapeutic approach.

Impact:

• Highlights the importance of early diagnosis and appropriate management of paroxismal polyserositis.
• Emphasizes the role of colchicine in preventing severe complications.
• Contributes to understanding rare inflammatory disorders and their genetic underpinnings.