Olbjørn Christine, Fjaerli Hans-Olav
Tidsskr Nor Laegeforen. 2010 Mar 11;130(5):494-5. doi: 10.4045/tidsskr.09.0692.
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.
本文讨论了一位同时患有家族性地中海热和乳糜泻的患者。我们先介绍该病例,然后讨论家族性地中海热的症状及治疗方法。
一名来自中东地区、父母有血缘关系的3岁半女孩因反复腹痛和发热入住儿科。每次发作时,炎症指标血沉(ESR)和C反应蛋白(CRP)显著升高,但未发现明显感染病灶。每次发作持续1 - 4天,且随后发作频率增加。实验室检查显示抗组织转谷氨酰胺酶IgA抗体滴度高,提示乳糜泻。小肠活检确诊为乳糜泻。开始采用无麸质饮食,但她仍反复出现腹痛和发热。鉴于其遗传背景,怀疑为家族性地中海热。进行了基因检测,发现她是该疾病最常见编码基因的纯合子。开始使用秋水仙碱治疗后,她腹痛和发热的发作频率降低。
家族性地中海热在挪威是一种罕见疾病,但在许多地中海国家较为常见。常见症状为反复腹痛、胸痛、关节痛和发热。秋水仙碱治疗可减轻炎症并降低发生淀粉样变性的风险。