Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.
OBJECTIVE
To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF).


METHODS
Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity.


RESULTS
Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes.


CONCLUSIONS
The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.
Heller Institute of Medical Science, Sheba Medical Center, Tel Hashomer, Israel.
Y
Y
Shinar
A
A
Livneh
P
P
Langevitz
N
N
Zaks
I
I
Aksentijevich
D E
DE
Koziol
D L
DL
Kastner
M
M
Pras
E
E
Pras
D017668:Age of Onset; D003078:Colchicine / Q000008:administration & dosage; D018450:Disease Progression; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D012737:Sex Factors
D003078:Colchicine