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Journals / Ankara Medical Journal / 2014 / Cilt: 14 - Sayı: 2

a Disease Hard to Recognize and Diagnose: Familial Mediterranean Fever

Tanı Süreci Uzun ve Tanınması Zor Olan Bir Hastalık: Ailevi Akdeniz Ateşi Hastalığı

Mustafa OĞULLUK
Fatih Mehmet KENİ
Erol AKTUNÇ
Pages
65–67
Publication Date
2022-10-12
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Our aim in reporting this case isto draw attention to the painstaking diagnostic process of FMF, although the time for diagnosis is gradually shortening inour country, which currently takes years on average.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Familial mediterranean fever (FMF) is an autosomal recessively inherited genetic disease.
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Key Findings & Data:The estimated prevalence ofFMF in Turkey is 1/ 1000 and 1/5 individuals are disease carriers.
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Conclusion & Impact:Our aim in reporting this case isto draw attention to the painstaking diagnostic process of FMF, although the time for diagnosis is gradually shortening inour country, which currently takes years on average.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Familial mediterranean fever (FMF) is an autosomal recessively inherited genetic disease. The estimated prevalence ofFMF in Turkey is 1/ 1000 and 1/5 individuals are disease carriers. As reported by the FMF study group in Turkey, only 5%of the FMF patients in our country have been diagnosed and are on treatment currently. Our aim in reporting this case isto draw attention to the painstaking diagnostic process of FMF, although the time for diagnosis is gradually shortening inour country, which currently takes years on average.

Özet

Ailevi Akdeniz ateşi (FMF), otozomal resesif geçişli bir genetik hastalıktır. Türkiye'de tahmini FMF prevalansı 1/ 1000,taşıyıcılık oram ise 1/5 'tir. Türkiye FMF çalışma grubunun bildirdiği üzere, ülkemizde mevcut olan FMF hastalarımngünümüzde dahi %5 gibi çok düşük bir bölümünün tanısı konulmuş ve tedavisi başlanmıştır. Bu olgu sunumundakiamacımız, ülkemizde gittikçe kısalan ancak ortalama yıl sürdüğü bildirilen FMF hastalığı tamlama sürecininsıkıntılarına yeniden dikkat çekmektir.

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Cite This Article

OĞULLUK, M., KENİ, F. M., AKTUNÇ, E. (2022). a Disease Hard to Recognize and Diagnose: Familial Mediterranean Fever. Ankara Medical Journal, Cilt: 14 - Sayı: 2, 65–67. https://ajindex.com/articles/442202

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