Adam Kociba
Michigan State University College of Osteopathic Medicine, USA
Scientific Tracks Abstracts: J Health Med Informat
Familial Mediterranean Fever (FMF) is an autoimmune inflammatory disorder characterized by recurrent fever and serosal inflammation, primarily affecting individuals of Mediterranean descent. The case under discussion highlights the diagnostic and management challenges associated with atypical FMF presentations and distinguishing between medicationinduced and disease-related pericarditis. In this case, the patient’s symptoms, including arthralgia, palpitations, and pericardial effusion, initially responded to sulfasalazine, but subsequent deterioration led to the introduction of colchicine. The significant improvement observed with colchicine, alongside a marked decrease in inflammatory markers, pointed towards atypical FMF, as indicated by genetic testing showing a heterozygous MEFV mutation (MET694val). This mutation is typically associated with carrier status rather than severe disease. This case underscores the complexity of diagnosing atypical FMF, particularly when distinguishing it from medication-induced conditions. Sulfasalazine was identified as a potential cause of pericarditis, making it challenging to differentiate between pericarditis due to FMF and that induced by the medication. Discontinuing sulfasalazine and starting colchicine proved effective in managing both the rheumatological and cardiac symptoms. This case highlights the need for careful evaluation when treating FMF patients who develop new symptoms, as well as the importance of further research into the interactions between sulfasalazine, FMF, and cardiovascular outcomes. Ongoing genetic studies and long-term follow-up are essential for optimizing treatment strategies and understanding the genetic basis of the disease.
Adam Kociba is in his 4th year of medical school at Michigan State University College of Osteopathic Medicine. He is lanning to apply to Internal Medicine residency programs this year and devotes his spare time to providing medical care for those experiencing homelessness in the Lansing, Michigan community..
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