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

Area of Science:

• Genetics
• Pediatric Rheumatology
• Immunology

Background:

• Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever and serositis.
• Typical FMF diagnosis occurs before age 20, with symptoms often emerging after age 2.
• Early diagnosis is crucial, particularly in endemic regions.

Purpose of the Study:

• To report the case of the youngest patient diagnosed with FMF.
• To emphasize the significance of early identification of autoinflammatory diseases in infants.
• To highlight the genetic basis and treatment response in an extremely young FMF case.

Main Methods:

• Case report of a 3-month-old infant presenting with fever and elevated acute phase reactants.
• Genetic mutation analysis identifying homozygous M694V and R202Q mutations.
• Clinical observation of response to colchicine therapy.

Main Results:

• The patient was diagnosed with FMF at 3 months of age, the youngest reported case.
• Genetic analysis revealed homozygous M694V and R202Q mutations, consistent with FMF.
• Colchicine treatment led to a gradual decline in the acute phase response and symptom control.

Conclusions:

• Early diagnosis of FMF is possible even in infancy, challenging traditional age-related diagnostic timelines.
• Prompt genetic analysis and initiation of colchicine are vital for managing FMF in very young children.
• This case underscores the need for heightened clinical suspicion for autoinflammatory diseases in infants, especially in populations where FMF is endemic.