Background Celiac disease is an autoimmune enteropathy caused by permanent sensitivity to gluten in genetically susceptible individuals. Mutations of the MEFV gene, which encodes pyrin protein, a negative regulator of inflammation, leads to Familial Mediterranean Fever. A large number of diseases have been reported to be associated with MEFV mutations, many with a probable immunological pathogenesis. Familial Mediterranean Feverand celiac disease had some similar clinical features including abdominal pain, diarrhea, arthralgia, and arthritis.
Objectives In this study, we aimed to determine whether there is any relationship between children with celiac disease and MEFV gene mutations.
Methods Children who had fulfilled the criteria of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition for the diagnosis of celiac disease, were screened for the mutations in exon 2 and exon 10 of the MEFV gene. No children had any typical symptom of Familial Mediterranean Fever. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing.
Results A total of 38 children, 22 girls (57.8 %), with a mean age of 9.44±4.58 years (2-17 years) were included. Five patients (13.15%) were heterozygous for MEFV gene, two of whom (5.3%) had p.M694Vmutation, one (%2.6) had p.E148Q mutation, one (%2.6) p.P646L mutation, and one (%2.6) p.V726A mutation. Only one patient (2.6%) was homozygous for MEFV gene (homozygous p.E148Q mutation). The allele frequency and carrier rate of MEFV mutations was found to be 9.2% and 15.8, respectively, which were similar to the general population (11% and 20%; p=0.75, p=0.83, respectively).
Conclusions MEFV mutation frequency in patients with celiac disease was similar to the normal population in Turkey. We do not recommend screening for MEFV mutations in every patient with celiac disease even in countries where FMF is frequent.
Disclosure of Interest None Declared