Abdominal and digestive system associations of familial Mediterranean fever

Area of Science:

• Genetics and Immunology
• Gastroenterology
• Internal Medicine

Background:

• Familial Mediterranean fever (FMF) is a hereditary episodic febrile syndrome characterized by fever, abdominal pain, and potential nephropathic amyloidosis.
• Despite gene discovery (MEFV) and identified mutations, FMF diagnosis remains clinical, with unexplained pathogenesis and heterogeneity.
• Episodic abdominal pain affects 95% of FMF patients, leading to frequent gastroenterologist consultations and abdominal imaging before diagnosis.

Purpose of the Study:

• To review common and infrequent gastrointestinal and abdominal manifestations of FMF relevant to gastroenterologists.
• To aid gastroenterologists in managing FMF patients presenting with diverse abdominal symptoms.
• To highlight FMF's impact on the gastrointestinal tract, directly or secondary to associated conditions.

Main Methods:

• Literature review focusing on recent advances in Familial Mediterranean fever.
• Analysis of clinical manifestations encountered by gastroenterologists in FMF patients.
• Compilation of gastrointestinal symptoms, including direct FMF effects and secondary complications.

Main Results:

• FMF patients frequently present with episodic abdominal pain, often leading to extensive workups.
• Gastrointestinal manifestations include ileus, constipation, diarrhea, ascites, malabsorption, bowel infarction, and bleeding.
• Symptoms can arise directly from FMF or be secondary to FMF-associated conditions like amyloidosis, vasculitis, or colchicine side effects.

Conclusions:

• Gastroenterologists play a crucial role in the diagnostic pathway for FMF patients due to prominent abdominal symptoms.
• Understanding the spectrum of FMF's gastrointestinal manifestations is essential for accurate diagnosis and management.
• This review provides a comprehensive guide for gastroenterologists to effectively manage FMF-related abdominal conditions.