Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was identified on chromosome 16, and 5 of the mutations discovered so far in the gene are most frequently encountered in FMF patients: p.[M694V], p.

Cost-benefit analysis of G6PD screening in Lebanese newborn males.

Introduction: G6PD deficiency is one of the most prevalent genetic diseases in Lebanon (1% in Lebanese males). Easy and effective screening methods exist to detect this deficiency early in newborns.

Objective: To assess the cost-effectiveness of G6PD deficiency screening in the routine work-up of every male newborn in Lebanon.

Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.

The incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Lebanon is estimated at 10 per 1,000 in men and 0.4 per 1,000 in women. A community-based cluster sampling survey was conducted in 15 villages in all areas in Lebanon.

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

Familial Mediterranean Fever (FMF), also known as paroxysmal polyserositis, is an autosomal recessive disease affecting mainly Mediterranean populations (Jews, Armenians, Arabs, Turks). It is characterised by recurrent crises of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. Erysipela-like erythema affecting mainly feet and legs and effort-induced myalgia are less frequently encountered symptoms.