Atypical Autosomal-Dominant Inheritance of Familial Mediterranean Fever

Area of Science:

• Genetics
• Immunology
• Internal Medicine

Background:

• Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent episodes of fever and inflammation.
• The disease is predominantly inherited in an autosomal recessive manner, linked to mutations in the MEFV gene.

Observation:

• A patient presented with clinical manifestations consistent with FMF, including recurrent fevers, abdominal pain, and serositis.
• The patient had a history of multiple abdominal surgeries attributed to chronic pain.
• Genetic analysis revealed only one pathogenic variation in the MEFV gene (c.2177T>C mutation).

Findings:

• This case demonstrates a rare instance of FMF exhibiting an autosomal-dominant inheritance pattern.
• The presence of a single pathogenic MEFV gene mutation was sufficient to cause the clinical phenotype of FMF.

Implications:

• This finding expands the understanding of FMF genetics and inheritance patterns.
• It suggests that autosomal-dominant inheritance should be considered in the diagnosis of FMF, even with a single identified mutation.
• This case underscores the importance of comprehensive genetic evaluation and clinical correlation in diagnosing complex genetic disorders.