Background:Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent attacks with autosomal recessive inheritance. FMF usually occurs in young age; most patients (90%) begin to suffer from their first attack before 20 years of age. Pregnancy can occur frequently during the course of the disease, as women of reproductive age are affected by the disease.Objectives:In this study, it was aimed to retrospectively examine the demographic, genetic, and clinical features (frequency of attacks during pregnancy, duration of attacks, treatment of attacks) of 26 cases who were followed up with a diagnosis of FMF in the last five years and experienced pregnancy.Methods:A total of twenty-six female FMF cases experienced pregnancy and diagnosed or followed up in our rheumatology center between 2015-2020 were included in the study. All patients were diagnosed according to Tel-Heshomer criteria. All data and follow-up visit records of the patients were retrospectively recorded by the rheumatologist. Patients were followed up by an obstetrician working in the same center during pregnancy. The demographic and genetic characteristics of the patients, the treatment used, the duration and characteristics of the attack during pregnancy, and the treatment they received during the attack were recorded retrospectively. Data processing and analysis conducted with SPSS 22 for Windows.Results:During the follow-up period, a total of 38 pregnancies were observed in 26 female cases. When the genetic mutation tests of all patients were examined, 61% were M694, 15% were V726, 11% were M680I positive and compound mutation was detected in 42% of the patients. The mean age of the patients was 30±7.8, the disease duration was 9.8± 5.4 years, the follow-up period was 38±14 months, the attack frequency during pregnancy was 3.6± 1.7 and the attack duration was 14± 9.8 hours. Considering the clinical features, fever was seen in 92.3%, abdominal pain 96.1%, chest pain 88.4%, arthritis 11.5% and other symptoms seen in 26% during attacks of pregnant FMF patients. All patients used 1 gram of colchicine regularly throughout pregnancy. Steroids were used in 11.5% of patients and non-steroid anti-inflammatory drugs in 53.8% of patients during the attack. Anakinra was used in 11.5% of the cases except for the first trimester following a written consent obtained from the patients.In 10.5% of 38 pregnancies, spontaneous abortion was observed in the early period, 7.8% of pregnancies resulted in preterm delivery before 32 weeks. In addition, 81.5% of pregnancy completed the planned period and resulted in a healthy birth. Cesarean section was performed in 4 patients and normal delivery procedure in 27 patients. Major malformation-anomaly was not observed in any baby. When patients using colchicine (73%) irregularly and less than 1 gram (26.9%) before pregnancy were compared in terms of attack frequency and duration, the group using regular medication had significantly fewer and shorter attacks (p<0.05).Three colchicine resistant patients with M694 homozygous mutation became pregnant under anakinra treatment. A total of five pregnancies were followed in three cases. No medication was used in these patients in the first trimester. As of the second trimester, 100mg/day for 3 days of anakinra was administered in these patients after obtaining an informed consent. In this patient group, no obstetric problem was observed during and after pregnancy, and healthy deliveries were realized.Conclusion:Pregnancy is common in FMF patients of reproductive age. Disease and relapse treatment during pregnancy is still a problem due to the limited number of medications that can be used for treatment. Further studies required to verify safety of Anakinra in refractory FMF cases. There is a need to develop options for the prevention and treatment of attacks during pregnancy.Disclosure of Interests:None declared
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome