Neonatal onset familial Mediterranean fever

Area of Science:

• Pediatric Rheumatology
• Genetics
• Internal Medicine

Background:

• Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
• Early disease onset in FMF correlates with increased disease severity.
• Neonatal onset FMF represents a distinct clinical subset requiring specific diagnostic considerations.

Purpose of the Study:

• To characterize the demographic, clinical, and genetic profiles of FMF patients with disease onset in the neonatal period.
• To highlight the diagnostic challenges and delays associated with early-onset FMF.
• To identify key genetic mutations prevalent in this patient cohort.

Main Methods:

• Retrospective analysis of medical records of FMF patients seen between January 2013 and January 2014.
• Inclusion criteria: FMF diagnosis with disease onset within the first month of life.
• Data collected included demographics, clinical presentation, family history, genetic mutations, and treatment initiation age.

Main Results:

• Nineteen patients (12 males) were identified with neonatal FMF onset out of 317 total FMF patients.
• A family history of FMF was present in approximately 60% of cases.
• Homozygous p.M694V mutation was identified in 42% of patients, and diagnostic delays were significant, with a median age of 3.5 years at therapy initiation.

Conclusions:

• FMF can manifest with symptoms during the neonatal period, often presenting as restlessness or colic-like attacks.
• The homozygous p.M694V mutation is a significant genetic factor in neonatal-onset FMF.
• Increased physician vigilance is necessary to prevent diagnostic delays in infants with suspected FMF.