Familial mediterranean Fever: diagnosing as early as 3 months of age.

[familial mediterranean fever]

Familial Mediterranean Fever is an autosomal recessive disease . Major symptoms of disease are recurrent fever accompanied by serositis attacks . The disease is usually diagnosed before 20 years of age . Symptoms related to FMF are noted when children become more verbal , usually after 2 years of age . In this case report , the youngest patient with the diagnosis of FMF is presented . She was consulted to pediatric rheumatology for the high acute phase response and fever . It was learned that her mother had recurrent swelling of her ankle joints . Mutation analysis was performed and two homozygous mutations (M 694 V and R 202 Q ) were identified . She was diagnosed as FMF at 3 months of age and colchicine was started . She responded to colchicine . Her uncontrolled acute phase response declined gradually . This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries .

Diseases
Validation

Diseases presenting "ankle joints" symptom

familial mediterranean fever

You can validate or delete this automatically detected symptom