Retrospective evaluation of the association of FMF mutation in chronic urticaria, anaphylaxis and angioedema

Aim: Autoinflammatory disease coexistence can be seen in allergic and immunological diseases, especially chronic urticaria, angioedema and anaphylaxis. In this study, we aimed to evaluate the relationship of the frequency of FMF mutation, which is the most common autoinflammatory disease in our country and in the world in chronic urticaria, angioedema and anaphylaxis, with these clinical findings and the response to immunosuppressive therapy. Patients and Method: Patients who were followed up in the Pediatric Immunology-Allergy Outpatient Clinic of Ondokuz Mayıs University Faculty of Medicine between 01.01.2018 and 01.01.2022 with the diagnosis of chronic urticaria, anaphylaxis and angioedema were included in the study. Patients receiving immunotherapy were not included to the study. The patients were evaluated in 2 groups as chronic urticaria versus anaphylaxis/angioedema. When the patients were examined in detail, it was observed that some patients had MTHFR mutations other than FMF mutations. Patients were compared according to their genetic results in 3 groups as those with FMF mutation, MTHFR mutation and no gene mutation. Results: 93 patients were included in the study. 41 (44%) were girls and 52 (56%) were boys. Chronic urticaria was seen in 32 (34.5%) patients, anaphylaxis in 26 (28%) patients, angioedema in 15 (16%) patients, and dual or triple diagnosis in 20 (21.5%) patients. Significant FMF mutation was detected in 10 (10.7%) patients and significant MTHFR mutation was detected in 9 (9.6%) patients. No gene mutation was detected in 51 (54.8%) patients. Eight (80%) patients with significant FMF mutation had chronic urticaria, 1 (10%) had anaphylaxis, and 1 (10%) had angioedema. Plasma C3 level was significantly lower in patients with chronic urticaria compared to patients with anaphylaxis and angioedema (p=0.016). FMF/rheumatological symptoms were more common in the group with significant FMF mutation (p=0.006). 19 (20.4%) of the patients received colchicine treatment and 11 (12%) received IVIG treatment. 3 (3%) patients received both IVIG and colchicine treatment. Colchicine treatment was higher in patients with chronic urticaria (14 patients, 73.7%) and patients with FMF mutations (7 patients, 58.3%) (p<0.05). In anaphylaxis/angioedema patients (10 patients, 90.9%), IVIG treatment was more common. Discussion and Conclusion: Chronic urticaria, anaphylaxis and angioedema are a group of allergic diseases that can be seen in all age groups and may be accompanied by autoinflammatory diseases. Colchicine and IVIG are effective drugs in the treatment of patients with chronic urticaria. Keywords: Chronic Urticaria, Anaphylaxis, Angioedema, FMF, Colchicine, IVIG, MTHFR