Background: Familiar Mediterranean Fever (FMF) is an autoinflammatory disease inherited with an autosomal recessive pattern and characterized by recurrent episodes of fever with polyserositis or/and arthritis. Colchicine is the first-line drug in treating the disease and preventing the occurrence of secondary amyloidosis. However, 5-10% of patients do not respond to colchicine and are candidates for biologics.
AIm: The purpose of this study was to determine the factors that affect the response to colchicine in pediatric patients with FMF.
Methods: Articles from the PubMed database were searched without time limitation in the literature. Only studies of English language with pediatric patients were included.
Results: Non-response to treatment has been associated with higher disease activity associated with specific mutations in the MEFV gene (eg M694V / M694V). Environmental factors and co-inflammatory diseases (eg, arthritis) also contribute to the severity of the disease. Other factors are related to the bioavailability of colchicine with emphasis on genetic polymorphisms in the ABCB1 transporter gene (MDR1) and interactions with drugs that inhibit the cytochrome P450 protein as well as the Pgp transporter protein (ABCB1). Finally, non-compliance to treatment should be considered in all patients with poor response.
Conclusions: Given the undesirable effects and the high cost of biological factors, it is crucial to accurately identify those patients who are high risk of not responding to colchicine and to determine the causes of ineffectiveness of treatment in this patient group.