Center for Paediatric Rheumatology, Asklepios Clinic Sankt Augustin, Arnold-Janssen-Str. 29, 53757 Sankt Augustin, Germany.
Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):99-102. Epub 2013 Sep 9.
An 11-year-old Turkish girl from a non-consanguineous family was suffering from joint pain, fever, hepatosplenomegaly, and respiratory insufficiency. Laboratory abnormalities were thrombocytopenia, elevated levels of serum transaminases, lactate dehydrogenase, and C-reactive protein (up to 193 mg / l), a hyperferritinaemia of 8030 ng/ml, and an increased sCD25. The tentative diagnosis of macrophage activation syndrome (MAS) was confirmed by the detection of a histiocytosis with haemophagocytosis in the bone marrow. Treatment with dexamethasone, cyclosporine A, and VP16 was successful. However, the diagnosis of MAS on the background of a systemic juvenile idiopathic arthritis was questionable because of recurrent, spontaneously remitting fever phases of 5 to 7 days duration without an obvious infectious aetiology. A positive family history of febrile episodes in three consecutive generations raised the suspicion of a dominantly inherited disease. Genetic studies revealed a likely pathogenetically relevant E56D/p.Glu85Asp mutation in exon 3 of the TNFRSF1A gene. Alterations of the MEFV gene, in contrast, were not found. To our knowledge, this is the first case of a macrophage activation syndrome as the initial manifestation of TRAPS. Similar case reports in patients with the far more common familial Mediterranean fever (FMF) have been published already.
一名 11 岁的土耳其女孩，来自非近亲家庭，患有关节痛、发热、肝脾肿大和呼吸功能不全。实验室异常包括血小板减少、血清转氨酶、乳酸脱氢酶和 C 反应蛋白（高达 193mg/L）升高、铁蛋白血症 8030ng/ml 和 sCD25 增加。骨髓组织中出现噬血细胞组织细胞增多症，提示巨噬细胞活化综合征（MAS）的诊断成立。给予地塞米松、环孢素 A 和 VP16 治疗后成功。然而，由于反复出现 5-7 天的自发性缓解发热期，且无明显感染病因，全身性幼年特发性关节炎背景下 MAS 的诊断值得怀疑。三代人中有发热病史的阳性家族史提示存在显性遗传疾病。基因研究显示 TNFRSF1A 基因第 3 外显子中可能存在致病性相关的 E56D/p.Glu85Asp 突变。然而，并未发现 MEFV 基因突变。据我们所知，这是巨噬细胞活化综合征作为 TRAPS 初始表现的首例病例。已经有类似的病例报告发表在更为常见的家族性地中海热（FMF）患者中。
