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

TL;DR

A 6-year-old girl with symptoms resembling Familial Mediterranean Fever was found to also have COPA syndrome, a rare immune disorder, highlighting the need for thorough genetic testing in complex cases.

Contribution

The paper presents a rare case of dual diagnosis of COPA syndrome and heterozygous FMF, emphasizing the importance of comprehensive genetic testing in children with atypical inflammatory symptoms.

Findings

A patient with FMF-like symptoms was found to have a heterozygous MEFV mutation and COPA syndrome.

Colchicine therapy led to a significant reduction in symptoms and lymphadenopathy.

The case underscores the need for genetic testing in children with complex inflammatory disorders.

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.