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MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever
Mehmet E Tezcan1, Mehmet Avci2, Ridvan Mercan3
1Departments of Rheumatology, Kartal Dr. Lutfi Kirdar Training and Research Hospital, Istanbul, Turkey.
Introduction:
Familial Mediterranean fever (FMF) is characterized by recurrent attacks of polyserositis. Even though clinical assessment is accepted to be the most important factor in the diagnosis of FMF, some diagnostic procedures may help the physician. In this study, we aimed to compare the number of diagnostic procedures performed and number of physician referrals in early diagnosed and late diagnosed cases. Furthermore, we assessed which diagnostic approaches would affect the decision-making of physicians in the early diagnosed patients.
Materials And Methods:
We enrolled into the study 143 FMF patients who met the Tel-Hashomer Criteria. Demographic variables, MEFV mutations (when available), diagnostic procedures (if performed) and specialist referrals were evaluated. Early diagnosis was defined as establishment of definite diagnosis within a 5-year period after the appearance of the first symptom.
Results:
Early diagnosed were referred to physicians less often, and except for genetic testing, had fewer diagnostic procedures. In addition to clinical features, MEFV testing was found to be the only method that might influence the diagnosis by a physician.
Conclusions:
MEFV gene assessment, unlike other diagnostic procedures, might support physicians in the early diagnosis of FMF. Especially in atypical cases, MEFV gene assessment might be considered for diagnosis of FMF.
Insights
Early diagnosis of Familial Mediterranean Fever (FMF) involves fewer physician referrals and diagnostic procedures. MEFV gene testing significantly aids physicians in making early FMF diagnoses, especially in complex cases.
Area of Science:
- Genetics
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean Fever (FMF) presents with recurrent polyserositis.
- Clinical assessment is key, but diagnostic procedures can aid FMF diagnosis.
- Comparing diagnostic approaches in early versus late FMF diagnosis is crucial.
Purpose of the Study:
- To compare diagnostic procedures and referrals in early vs. late FMF diagnosis.
- To identify diagnostic approaches influencing physician decisions in early FMF diagnosis.
Main Methods:
- 143 FMF patients meeting Tel-Hashomer Criteria were analyzed.
- Demographic data, MEFV mutations, diagnostic procedures, and referrals were evaluated.
- Early diagnosis was defined as diagnosis within 5 years of symptom onset.
Main Results:
- Early FMF diagnosis correlated with fewer referrals and diagnostic procedures (excluding genetic testing).
- MEFV gene testing, alongside clinical features, influenced physician diagnostic decisions.
- Genetic testing was the sole diagnostic procedure impacting early FMF diagnosis.
Conclusions:
- MEFV gene assessment supports early FMF diagnosis, particularly in atypical presentations.
- Genetic testing may be a valuable tool for timely FMF diagnosis.
- Consider MEFV gene assessment for FMF diagnosis, especially in challenging cases.
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