ArticleCase reports in pediatrics2025
Pediatric COPA Syndrome Overlapping With Heterozygous Familial Mediterranean Fever: A Dual Inflammatory Disorder.
Article in Case reports in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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