Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura.
OBJECTIVE
Based on the fact that Henoch-Schönlein purpura (HSP) occurs in approximately 5% of persons with familial Mediterranean fever (FMF), we assessed the prevalence and significance of FMF gene mutations in children with one or more episodes of HSP.


METHODS
Thirty-four boys and 18 girls treated for HSP at Rambam Medical Center were interviewed and asked to donate blood. Mean age at disease onset was 6.7+/-2. 4 years, and mean follow-up was 3.8+/-1.3 years. Six predominant mutations (M694V, M680I, M694I, V726A, K695R, E148Q) in the MEFV gene were studied.


RESULTS
Nine heterozygotes, three homozygotes and two compound heterozygotes, were identified. Altogether, five persons (10%) carried two mutated MEFV alleles, a number significantly exceeding that determined for the general Israeli population (1%-2%). Of these, three displayed genotypes associated with a mild form of disease (M694V/E148Q and V726A/V726A), and two had genotypes normally observed in disease-free persons (E148Q/K695R and E148Q/E148Q).


CONCLUSIONS
Occult FMF cases much more numerous than expected were identified among children presenting with HSP. Such children should be closely monitored for renal complications, and treatment with colchicine should be considered.
Gershoni-Baruch
Ruth
R
Department of Human Genetics, Rambam Medical Center, and the Bruce Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. rgershoni@rambam.health.gov.il
Broza
Yiftah
Y
Brik
Riva
R
D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin