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Coexisting Diseases in Patients with Familial Mediterranean Fever
Farhad Salehzadeh1, Afsaneh Enteshari Moghaddam2
1Pediatric Department, Bouali Children`s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.
Open Access Rheumatology : Research and Reviews
|June 18, 2020
Summary
Familial Mediterranean fever (FMF) patients with MEFV gene mutations frequently present with coexisting diseases, primarily rheumatologic, gastrointestinal, and neurological conditions. The M694V, E148Q, V726A, M680I, and M694I variants were most commonly associated with these comorbidities.
Area of Science:
- Genetics and Genomics
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is a prototypic autoinflammatory disease.
- FMF is primarily linked to mutations in the MEFV gene.
- Understanding coexisting conditions in FMF is crucial for comprehensive patient management.
Purpose of the Study:
- To investigate the prevalence and types of diseases coexisting with FMF.
- To identify associations between specific MEFV gene mutations and comorbid conditions.
- To describe the spectrum of associated diseases in a cohort of FMF patients.
Main Methods:
- A single-center study analyzed 400 FMF patients diagnosed via clinical criteria and/or MEFV mutations.
- Twelve common MEFV mutations were analyzed using reverse hybridization assay.
- Coexisting diseases were confirmed by relevant subspecialists.
Main Results:
- 14% of FMF patients (57/400) had associated diseases.
- Rheumatologic, gastrointestinal, and neurological disorders were the most common comorbidities.
- Specific MEFV variants like M694V, E148Q, and V726A were frequently observed; M694V-M694V homozygosity was linked to idiopathic ascites, orchitis, and pericarditis.
Conclusions:
- Coexisting diseases are common in FMF patients with MEFV gene mutations.
- The M694V, E148Q, V726A, M680I, and M694I variants are particularly associated with comorbidities.
- Rheumatologic, gastrointestinal, and central nervous system disorders are the most frequent associated conditions in FMF.
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