En tre år gammel jente med magesmerter og feber

Abstract

A patient with both familial Mediterranean fever and coeliac disease is discussed. We present our case and then discuss symptoms and treatment of familial Mediterranean fever. A 3 1/2 year-old girl from the Middle East, parents related, was admitted to the Paediatric Department with recurrent episodes of abdominal pain and fever. During each episode the inflammatory markers ESR and CRP were significantly raised, but with no apparent focus of infection. Each episode lasted 1-4 days and subsequently became more frequent. Laboratory evaluation revealed a high titer for IgA anti-tissue transglutaminase suggestive of coeliac disease. Coeliac disease was confirmed by small-bowel biopsy. A gluten-free diet was started, but she continued to have recurrent episodes of abdominal pain and fever. Because of her genetic origin the diagnosis familial Mediterranean fever was suspected. Genetic testing was performed, and she was found to be homozygote for the most common gene encoding for the disease. Colchicine therapy was initiated and her episodes with abdominal pain and fever became less frequent. Familial Mediterranean fever is a rare disorder in Norway but frequent in many Mediterranean countries. Common symptoms are recurrent episodes of abdominal pain, chest pain, joint pain and fever. Treatment with colchicine reduces inflammation and the risk of developing amyloidosis.