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Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF
1Department of Neurology, the Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Background And Purpose:
To describe and characterize the association between familial Mediterranean fever (FMF) and multiple sclerosis (MS).
Methods:
The patient registry of The National Center for FMF was screened for the coexistence of FMF and MS. Tel-Hashomer criteria were used for the diagnosis of FMF, and FMF severity was evaluated, using the simplified FMF severity scale. McDonald criteria were used for the diagnosis of MS, and neurologic disability was measured using the expanded disability status scale (EDSS).
Results:
We identified nine patients, affected with both FMF and MS. The onset of the FMF averaged 15.6 (3-37) years. Most patients suffered from abdominal and joint attacks, and 50% of the patients sustained a moderate to severe FMF. The onset of the MS was at an average age of 31.6 (17-50) years. Neurologic manifestations varied individually, without a dominant deficit, and the course was in a relapsing-remitting pattern in most. The median EDSS was in general of low score (3.0), apart from the patients who were homozygous for the M694V mutation, in whom the MS was more severe. Based on our case series, the frequency of MS in our FMF population is 0.075%, twice higher the expected rate in the general population (P=0.0057).
Conclusions:
Multiple sclerosis is more common in FMF than in the general Israeli population. Homozygosity for the M694V MEFV mutation may aggravate the phenotype of MS and predispose FMF patients to develop MS.
Insights
Multiple sclerosis (MS) is more prevalent in familial Mediterranean fever (FMF) patients than in the general population. Certain genetic factors in FMF may increase MS risk and severity.
Area of Science:
- Genetics and Autoimmune Diseases
- Clinical Epidemiology
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
Purpose of the Study:
- To investigate the association between FMF and MS.
- To characterize the prevalence and clinical presentation of MS in FMF patients.
Main Methods:
- Screening of the National Center for FMF patient registry for co-occurrence of FMF and MS.
- Diagnosis of FMF using Tel-Hashomer criteria and MS using McDonald criteria.
- Assessment of FMF severity and neurological disability using EDSS.
Main Results:
- Nine patients with both FMF and MS were identified.
- MS was diagnosed at an average age of 31.6 years; FMF onset averaged 15.6 years.
- The prevalence of MS in FMF patients was 0.075%, double the expected rate (P=0.0057).
- Homozygosity for the M694V mutation correlated with more severe MS.
Conclusions:
- MS is more common in individuals with FMF.
- The M694V MEFV mutation may influence MS severity and predisposition in FMF patients.
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