Familial Mediterranean Fever without Fever

Area of Science:

• Genetics
• Internal Medicine
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
• FMF typically presents with recurrent febrile episodes and serosal inflammation.

Observation:

• A 34-year-old Japanese male experienced recurrent abdominal pain without fever.
• Elevated inflammatory markers and jejunal membrane enhancement were noted during symptomatic episodes.
• Genetic analysis confirmed a diagnosis of FMF.

Findings:

• This case highlights a rare, afebrile variant of FMF.
• Colchicine therapy effectively prevented symptom recurrence for over a year.

Implications:

• The findings expand the clinical spectrum of FMF.
• This case underscores the importance of genetic testing for FMF, even in atypical presentations.
• Early diagnosis and treatment with colchicine are crucial for managing FMF.