Familial Mediterranean fever may mimic acute appendicitis in children

Area of Science:

• Pediatric Surgery
• Genetics and Hereditary Diseases
• Internal Medicine

Background:

• Acute appendicitis is the most frequent surgical emergency in children.
• Familial Mediterranean Fever (FMF) presents with recurrent fever and serositis, potentially mimicking acute abdominal conditions.
• FMF is prevalent in specific ethnic groups but can occur elsewhere, posing diagnostic challenges.

Purpose of the Study:

• To enhance awareness and knowledge of Familial Mediterranean Fever (FMF) among pediatric surgeons.
• To provide clinical support for managing children with FMF presenting with acute abdominal pain.
• To aid in differentiating FMF from acute appendicitis and other surgical emergencies.

Main Methods:

• Review of clinical features of FMF relevant to pediatric surgical emergencies.
• Analysis of diagnostic challenges in distinguishing FMF from acute appendicitis and small bowel obstruction.
• Discussion of imaging findings (ultrasound, CT) in FMF and other acute abdominal conditions.

Main Results:

• FMF attacks, characterized by fever and serositis, can mimic surgical emergencies like appendicitis.
• Imaging findings during FMF attacks are often nonspecific, unlike those for appendicitis or obstruction.
• Colchicine is the primary treatment for FMF, preventing attacks and long-term complications like amyloidosis.

Conclusions:

• Pediatric surgeons must consider FMF in the differential diagnosis of acute abdominal pain in children, especially those with relevant ancestry.
• Early recognition and appropriate management of FMF are essential to prevent misdiagnosis and unnecessary surgery.
• Increased awareness and knowledge of FMF can improve patient outcomes in areas where the disease is rare.