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E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
R Topaloglu1, F Ozaltin, E Yilmaz
1Hacettepe University Faculty of Medicine, Department of Paediatric Nephrology and Rheumatology, 06100 Ankara, Turkey. rtopalog@.hacettepe.edu.tr
Background:
Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association.
Objective:
To evaluate the phenotypic features of the patients with E148Q mutation.
Subjects:
26 patients homozygous for E148Q, 10 compound heterozygous for E148Q, and eight complex cases were assessed.
Results:
Although four of the 26 patients with E148Q/E148Q were asymptomatic at the time of evaluation, abdominal pain was seen in 77% of the patients, fever in 66%, arthralgia in 50%, arthritis in 15.4%, and vomiting in 23.8%. Compound heterozygotes and complex cases had a higher frequency of abdominal pain, fever, arthralgia, arthritis, myalgia, and chest pain than subjects who were homozygous for E148Q, but none of these symptoms reached statistical significance. None of our patients had amyloidosis but two with E148Q/E148Q had a family history of amyloidosis and one had rapidly progressive glomerulonephritis secondary to vasculitis, which progressed to chronic renal failure.
Conclusions:
Patients homozygous for E148Q have a heterogeneous clinical presentation. Most are symptomatic and colchicine treatment is required in these patients.
Insights
Familial Mediterranean fever (FMF) patients with the E148Q MEFV gene mutation show varied symptoms, with most homozygous individuals requiring colchicine treatment. This study clarifies the E148Q mutation
Area of Science:
- Genetics and Molecular Biology
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is a periodic fever syndrome prevalent in specific ethnic groups.
- The MEFV gene harbors mutations, including E148Q, linked to FMF.
- The E148Q mutation's clinical significance and disease association have been debated.
Purpose of the Study:
- To investigate the clinical manifestations associated with the E148Q mutation in Familial Mediterranean fever patients.
- To characterize the phenotype of individuals with homozygous and compound heterozygous E148Q mutations.
Main Methods:
- Assessment of 26 homozygous E148Q patients, 10 compound heterozygous E148Q patients, and 8 complex cases.
- Clinical evaluation of phenotypic features including abdominal pain, fever, arthralgia, arthritis, and other symptoms.
- Review of patient history for conditions like amyloidosis and renal complications.
Main Results:
- Homozygous E148Q patients exhibited diverse symptoms, with 77% experiencing abdominal pain and 66% reporting fever.
- Compound heterozygotes and complex cases showed a trend towards more frequent symptoms, though not statistically significant.
- No amyloidosis was observed in patients, but a family history of amyloidosis and glomerulonephritis secondary to vasculitis were noted.
Conclusions:
- Patients with homozygous E148Q mutations present with a heterogeneous clinical picture.
- The majority of E148Q homozygous patients are symptomatic and necessitate colchicine therapy.
- Further research is needed to fully elucidate the role of E148Q in FMF pathogenesis and long-term outcomes.
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