MEFV gene mutations in children with Henoch-Schonlein purpura and their correlationsdo mutations matter?

ObjectiveTo explore the frequency of MEFV gene mutations in children with Henoch-Schonlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schonlein purpura.MethodsData of 1120 patients diagnosed with Henoch-Schonlein purpura were reviewed retrospectively. The spectrum and degree of organ involvement and acute phase reactant levels were documented for each patient. Blood for MEFV gene mutation analysis was obtained either at the time of the Henoch-Schonlein purpura diagnosis or during follow-up visits. Pathological specimens of patients who underwent biopsy (renal/skin) were evaluated with special consideration for immunofluorescent examinations.ResultsTwo hundred and thirty-eight (21.3%) patients were found to have one of the MEFV mutations in which exon 10 mutations were the most common (16.7%). Abdominal pain, joint involvement, scrotal involvement, and relapse were more frequent, and acute-phase reactant levels were significantly high in patients with MEFV mutations. More severe characteristics were observed in the presence of homozygous exon 10 mutations. There was no significant association between exon 2 variants and clinical course of Henoch-Schonlein purpura. Patients carrying MEFV mutations did not have significantly higher levels of IgA deposits in the biopsy materials.ConclusionHenoch-Schonlein purpura in patients with homozygous exon 10 MEFV mutations seems to be more severe than that in patients carrying other mutations. In patients with exon 10 MEFV mutations, Henoch-Schonlein purpura might be considered as an associated presentation of familial Mediterranean fever rather than a separate clinical entity.