Abstract
Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement.
Highlights
Familial Mediterranean fever (FMF) is an autoinflammatory disease, typically presented with recurrent fever episodes in addition to serosal inflammation symptoms
Familial Mediterranean fever is an autoimmune disease resulting from mutations in the MEFV gene, which encodes pyrin, an inflammasome protein [4]. e gene is located on chromosome 16, and the mutations in this gene are accompanied by both autosomal recessive and autosomal dominant patterns of inheritance. e mutation inherited in an autosomal recessive pattern is usually considered homozygous or compound heterozygous, while the mutation inherited by an autosomal dominant pattern is heterozygous
In 2019, Bilge et al [6] conducted a study to compare the disease severity of FMF patients with identified mutations located in exon 10 and exon 2. eir findings suggested that amyloidosis, arthritis, and erysipelaslike erythema (ELE) were more frequent in patients with a mutation in exon 10
Summary
Familial Mediterranean fever (FMF) is an autoinflammatory disease, typically presented with recurrent fever episodes in addition to serosal inflammation symptoms. Colchicine is the treatment of choice for FMF patients; there have been reported cases from different parts of the world whose disease was not controlled only by. E accurate definition of colchicine resistance in FMF patients has not been well established. Various factors have been considered in the literature, including attack frequency, attack duration, physician assessment, clinical symptoms, and the level of acute phase reactants. We hereby describe a case of FMF diagnosed based on the clinical symptoms and the findings of direct Sanger sequencing. The attacks were not controlled prior to the addition of Dapsone to the colchicine regimen
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