Nazife Sule Yasar Bilge1, Ismail Sari2, Dilek Solmaz2, Soner Senel3, Hakan Emmungil4, Levent Kilic5, Sibel Yilmaz Oner6, Fatih Yildiz7, Sedat Yilmaz8, Duygu Ersozlu Bozkirli9, Muge Aydin Tufan9, Sema Yilmaz10, Veli Yazisiz11, Yavuz Pehlivan12, Cemal Bes13, Gozde Yildirim Cetin14, Sukran Erten15, Emel Gonullu1, Fezan Sahin16, Servet Akar2, Kenan Aksu4, Umut Kalyoncu5, Haner Direskeneli6, Eren Erken7, Mehmet Sayarlioglu14, Muhammed Cınar8, Timucin Kasifoglu1. 1. Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. 2. Division of Rheumatology, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey. 3. Division of Rheumatology, Department of Internal Medicine, Erciyes University, Kayseri, Turkey. 4. Division of Rheumatology, Department of Internal Medicine, Ege University, Izmir, Turkey. 5. Division of Rheumatology, Department of Internal Medicine, Hacettepe University, Ankara, Turkey. 6. Division of Rheumatology, Department of Internal Medicine, Marmara University, Istanbul, Turkey. 7. Division of Rheumatology, Department of Internal Medicine, Cukurova University, Adana, Turkey. 8. Division of Rheumatology, Department of Internal Medicine, Gulhane Military School of Medicine, Ankara, Turkey. 9. Division of Rheumatology, Department of Internal Medicine, Adana Numune Education and Research Hospital, Adana, Turkey. 10. Division of Rheumatology, Department of Internal Medicine, Selcuklu University, Konya, Turkey. 11. Division of Rheumatology, Department of Internal Medicine, Sisli Etfal Education and Research Hospital, Istanbul, Turkey. 12. Division of Rheumatology, Department of Internal Medicine, Gaziantep University, Gaziantep, Turkey. 13. Division of Rheumatology, Department of Internal Medicine, Abant Izzet Baysal University, Bolu, Turkey. 14. Division of Rheumatology, Department of Internal Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey. 15. Division of Rheumatology, Department of Internal Medicine, Ankara Education and Research Hospital, Ankara, Turkey. 16. Department of Biostatistics, Eskisehir Osmangazi University, Eskisehir, Turkey.
Abstract
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. RESULTS: Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. CONCLUSION: Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMFpatients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. RESULTS: Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. CONCLUSION:Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.
Authors: Malik Ejder Yildirim; Hande Kucuk Kurtulgan; Ozturk Ozdemir; Hasan Kilicgun; Didem S Aydemir; Burak Baser; Ilhan Sezgin Journal: Ann Saudi Med Date: 2019-12-05 Impact factor: 1.526
Authors: Frederik Staels; Tom Collignon; Albrecht Betrains; Margaux Gerbaux; Mathijs Willemsen; Stephanie Humblet-Baron; Adrian Liston; Steven Vanderschueren; Rik Schrijvers Journal: Front Immunol Date: 2021-11-17 Impact factor: 7.561