Background:Familial Mediterranean fever
(FMF) is an autoinflammatory genetic disorder that associated with different
genetic mutations.Frequency of clinical manifestation differs
according to age group, geographic region and ethnic population. Objectives: To study the clinical manifestation of FMF in relation to genotype (M680I,
M694V, M694I and V726A). Result: The main presentation of studied group
was abdominal pain 65.9% (203), followed by fever 60.4% (186) patients.
(Mutation M694V) was the commonest 47.6% (297),
followed by (Mutation V726A) in 32.8% (169%), then (Mutation M6802) in 23.4%
(121) lastly (Mutation M6941) was in 22.1% (114) patients. Fever was highly
associated with mutation (V729A) and it was statistically significant (*p value
0.047). Conclusion: Abdominal pain and fever were the most common
manifestation of FMF patients. (Mutation M694V), (Mutation V726A) were
the most detected mutation. Third age group; fever was associated with genetic
mutation (V726A), abdominal pain with (M6941).
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