| Autor: |
Bodur H; Department of Physical Medicine and Rehabilitation, Ankara Numune Training and Research Hospital, Ankara, Turkey., Yurdakul FG; Department of Physical Medicine and Rehabilitation, Ankara Numune Training and Research Hospital, Ankara, Turkey. fatmagulonder@gmail.com., Çay HF; Department of Physical Medicine and Rehabilitation, Rheumatology Clinic, Antalya Training and Research Hospital, Antalya, Turkey., Uçar Ü; Department of Physical Medicine and Rehabilitation, Rheumatology Clinic, Antalya Training and Research Hospital, Antalya, Turkey.; Department of Physical Medicine and Rehabilitation, Rheumatology Clinic, Bozyaka Training and Research Hospital, İzmir, Turkey., Keskin Y; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Bezmialem Vakıf University, Istanbul, Turkey., Sargın B; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Adnan Menderes University, Aydin, Turkey.; Department of Rheumatology, Aydın State Hospital, Aydin, Turkey., Gürer G; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Adnan Menderes University, Aydin, Turkey., Yurdakul OV; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Bezmialem Vakıf University, Istanbul, Turkey., Çalış M; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Erciyes University, Kayseri, Turkey., Deveci H; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Gaziosmanpaşa University, Tokat, Turkey., Aydın Y; Department of Physical Medicine and Rehabilitation, Training and Research Hospital, Sakarya University, Sakarya, Turkey., Hizmetli S; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Cumhuriyet University, Sivas, Turkey., Çevik R; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Dicle University, Diyarbakır, Turkey., Karahan AY; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Uşak University, Uşak, Turkey., Sunar İ; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Ankara University, Ankara, Turkey., Duruöz MT; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Marmara University, Istanbul, Turkey., Ecesoy H; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Necmettin Erbakan University, Konya, Turkey., Günendi Z; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Gazi University, Ankara, Turkey., Toprak M; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Van Yüzüncü Yıl University, Van, Turkey., Şen N; Rheumatology Clinic, Kartal Dr. Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey., Altıntaş D; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Atatürk University, Erzurum, Turkey., Cengiz AK; Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Sivas Numune Training and Research Hospital, Sivas, Turkey.; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, 19 Mayıs University, Samsun, Turkey., Çağlayan G; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Cumhuriyet University, Sivas, Turkey., Demir AN; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Akdeniz University, Antalya, Turkey., Kaplan H; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Erciyes University, Kayseri, Turkey.; Department of Physical Medicine and Rehabilitation, Aksaray University Training and Research Hospital, Aksaray, Turkey., Ketenci S; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Giresun University, Giresun, Turkey., Melikoğlu MA; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Atatürk University, Erzurum, Turkey., Nayimoğlu M; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Namık Kemal University, Tekirdağ, Turkey., Nas K; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Immunology Clinic, Sakarya University, Sakarya, Turkey., Sarıfakıoğlu AB; Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Namık Kemal University, Tekirdağ, Turkey., Sezer İ; Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Akdeniz University, Antalya, Turkey. |
| Abstrakt: |
The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Disease severity, assessed using a scoring system developed by Pras et al., was evaluated in relation to gene mutations and age of disease onset. A total of 979 patients (643 females and 336 males; mean age: 35.92 ± 11.97 years) with FMF were included in the study. Of a total of 585 pregnancies, 7% of them resulted in preterm birth and 18.1% resulted in abortions. During pregnancy, there was no FMF attack in 61.4% of patients. Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. Patients with homozygous gene mutations had more severe disease activity, earlier age of disease onset, higher rates of joint and skin involvement, sacroiliitis, and amyloidosis. Patients with compound heterozygous genotype displayed severe disease activity in close resemblance to patients with homozygous mutation. In addition, patients with compound heterozygous mutations had higher rates of protracted febrile myalgia and elevated fibrinogen levels. In 63.9% of compound heterozygous patients, age of onset was < 20 years, with greater disease severity, and high rates of attack frequency and colchicine resistance. Our results suggest that indicators for disease severity include early onset of disease and homozygous gene mutations. Furthermore, patients with compound heterozygous mutations displayed significant presentations of severe disease activity. |
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