Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever

Erdem Gursoy, Didem; Gezer, Halise Hande; Oz, Nuran; Ozer, Aygun; Acer Kasman, Sevtap; Duruoz, Mehmet Tuncay

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Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever [North Clin Istanb]

North Clin Istanb. 2023; 10(4): 451-457 | DOI: 10.14744/nci.2022.76736

Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever

Didem Erdem Gursoy¹, Halise Hande Gezer², Nuran Oz³, Aygun Ozer³, Sevtap Acer Kasman⁴, Mehmet Tuncay Duruoz³
¹Department of Rheumatology, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul, Turkiye
²Department of Rheumatology, Umraniye Research and Training Hospital, Istanbul, Turkiye
³Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Marmara University Faculty of Medicine, Istanbul, Turkiye
⁴Department of Rheumatology, Dr. Lufti Kirdar Research and Training Hospital, Istanbul, Turkiye

OBJECTIVE: This study aimed to determine the frequency of late-onset familial Mediterranean fever (FMF) and compare the clinical and genetic features, functional status, and health-related quality of life (QoL) of patients with early-onset and late-onset disease.
METHODS: Patients with onset of symptoms ≤20 and >20 years of age were classified as early-onset and late-onset FMF, respectively. The clinical characteristics, MEFV gene mutations, and Pras disease severity scores were recorded. Physical disability and QoL were assessed with the health assessment questionnaire (HAQ) and short form 36 (SF-36), respectively.
RESULTS: The mean age of 138 patients (104 women and 34 men) was 37.7�12.69 years. The percentages of patients with early- and late-onset FMF were 68.1% and 31.9%, respectively. Female sex, mild disease, arthritis, and sacroiliitis were more common in the late-onset group (p<0.05). The delay in diagnosis was shorter in the late-onset disease group (p<0.001). The percentage of homozygous M694V mutations was lower in late-onset disease (p=0.015). There were no differences in HAQ and SF-36 scores between early- and late-onset diseases (p>0.05).
CONCLUSION: The patients with late-onset FMF had a female predominance, a shorter delay of diagnosis, more frequent arthritis and sacroiliitis, a less frequent homozygous M694V mutation, and a milder disease severity than those with early-onset disease. Physical function and health-related QoL were similar in early- and late-onset FMF groups.

Keywords: Disease activity, familial Mediterranean fever, functional status, quality of life.

Ge� ba�lang��l� ailesel Akdeniz ate�i tan�l� hastalarda klinik �zellikler, fonksiyonel durum ve ya�am kalitesi

Didem Erdem Gursoy¹, Halise Hande Gezer², Nuran Oz³, Aygun Ozer³, Sevtap Acer Kasman⁴, Mehmet Tuncay Duruoz³
¹Prof. Dr. Cemil Ta�c�o�lu �ehir Hastanesi, Romatoloji Klini�i, �stanbul
²�mraniye E�itim ve Ara�t�rma Hastanesi, Romatoloji Klini�i, �stanbul
³Marmara �niversitesi T�p Fak�ltesi, Fiziksel T�p ve Rehabilitasyon Ana Bilim Dal�, Romatoloji Bilim Dal�, �stanbul
⁴Dr. L�fti K�rdar E�itim ve Ara�t�rma Hastanesi, Romatoloji Klini�i, �stanbul

Ama�: Bu �al��mada ge� ba�lang��l� ailesel Akdeniz ate�i (AAA) s�kl��n�n belirlenmesi, erken ve ge� ba�lang��l� AAA hastalar�n klinik ve genetik �zellikleri, fonksiyonel durumlar� ve sa�l�kla ilgili ya�am kalitelerinin kar��la�t�r�lmas� ama�land�.
Y�ntemler: Semptom ba�lang�c� ≤ 20 ve > 20 ya��nda olan hastalar s�ras�yla erken ve ge� ba�lang��l� AAA olarak s�n�fland�r�ld�. Klinik �zellikler, MEFV gen mutasyonlar� ve PRAS hastal�k �iddeti skoru kaydedildi. Fiziksel engellili�i ve ya�am kalitesini de�erlendirmek i�in s�ras�yla Sa�l�k De�erlendirme Anketi (HAQ) ve Short Form 36 (SF-36) kullan�ld�.
Bulgular: 138 hastan�n (104 kad�n, 34 erkek) ya� ortalamas� 37.7 � 12.69 olarak saptand�. Erken ve ge� ba�lang��l� AAA olan hastalar�n y�zdeleri s�ras�yla %68.1 ve %31.9� idi. Kad�n cinsiyet, hafif hastal�k, artrit ve sakroiliit ge� ba�lang��l� hastal�k grubunda daha s�kt� (p<0.05). Ge� ba�lang��l� hastal�� olanlarda tan�da gecikme s�resi daha k�sayd� (p<0.001). Homozigot M694V mutasyon oran� ge� ba�lang��l� AAA hastalar�nda daha d��kt� (p=0.015). SF-36 ve HAQ skorlar� a��s�ndan erken ve ge� ba�lang��l� AAA hastalar� aras�nda fark saptanmad� (p>0.05).
Sonu�: Ge� ba�lang��l� AAA hastalar�nda erken ba�lang��l� hastalara g�re kad�n cinsiyet bask�nl��, daha k�sa tan� gecikme s�resi, daha s�k artrit ve sakroiliit varl��, daha az s�k homozigot M694V mutasyonu ve daha hafif hastal�k �iddeti saptand�. Fiziksel fonksiyon ve sa�l�kla ilgili ya�am kalitesi, erken ve ge� ba�lang��l� FMF hastalar� aras�nda benzerdi. (NCI-2022-6-5/R1)

Anahtar Kelimeler: Hastal�k aktivitesi, ailevi Akdeniz ate�i, fonksiyonel durum, ya�am kalitesi.

Corresponding Author: Didem Erdem Gursoy
Manuscript Language: English

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