Observer, Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children Hospital Upstate Medical University, Syracuse New York, USA.
Professor, Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children’s Hospital Upstate Medical University, Syracuse New York, USA.
Assistant Professor Pediatric Gastroenterology, John Hopkins University, St Petersburg Florida, USA.
Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the quality of life may be affected in such patients. Therefore, physicians should not delay the evaluation in such cases and promptly initiate treatment to not only improve quality of life but to also avoid complications, such as amyloidosis. This study reports two different cases of familial Mediterranean fever, with varying clinical presentations, and established diagnosis via genetic testing as well as cessation of symptoms with a trial of therapy. Furthermore, this study discusses the various manifestations of familial Mediterranean fever, laboratory findings, and current therapies available for management.