Pediatric COPA Syndrome Overlapping With Heterozygous Familial Mediterranean Fever: A Dual Inflammatory Disorder

We present the case of a 6-year-old Palestinian girl who suffered from recurrent attacks of arthralgia, abdominal pain, fever, and mesenteric lymphadenopathy over the past 3 years. Despite the presence of all clinical diagnostic criteria for Familial Mediterranean Fever (FMF) and a heterozygous mutation (p.V726A) in the Mediterranean Fever (MEFV) gene, the atypical presentation of these symptoms prompted a comprehensive genetic examination. This revealed COPA syndrome as an additional diagnosis, a rare autosomal dominant disorder of immune dysregulation that affects the lungs, joints, and occasionally the kidneys. Following colchicine therapy, patient's symptoms and lymphadenopathy decreased, indicating a significant recovery. We emphasize the importance of a comprehensive genetic examination in children with complex symptoms and doubt about the diagnosis to enable early detection of rare disorders and prompt initiation of treatment.