van Ruth S, Lokhorst H M, Bruijnzeel-Koomen C A F M
Universitair Medisch Centrum Utrecht.
Ned Tijdschr Geneeskd. 2006 May 27;150(21):1193-7.
Persistent eosinophilia was diagnosed in a 19-year-old woman with general malaise, dyspnoea attacks, coughing and episodes of angioedema and associated swallowing problems, and in a 21-year-old man with visual problems, dyspnoea, fatigue, reduced appetite, weight loss and gastrointestinal problems. Both had hypereosinophilic syndrome (a rare disease) with organ damage. In both patients, fluorescence-in-situ-hybridisation (FISH) was negative for the fusion gene FIP1L1-PDGFRA (FIPI-like-1-platelet-derived growth factor receptor alpha). The female patient's disease did not respond to either oral corticosteroids or imatinib, but did respond to hydroxycarbamide. The male patient successively received prednisone, interferon alpha and hydroxycarbamide. His eosinophilia progressed nonetheless, but responded partially to imatinib. In addition, the patient underwent an allogenic non-myeloblative stem cell transplantation from his HLA-identical sister. In patients with persistent eosinophilia accompanied by organ damage or organ dysfunction, hypereosinophilic syndrome can be diagnosed providing all secondary causes of the eosinophilia have been ruled out. Complementary investigations should include cytogenetic and clonal analysis to rule out haemopoietic malignancy. Prednisone, hydroxycarbamide, interferon alpha and the promising imatinib are all treatment options.
一名19岁女性被诊断为持续性嗜酸性粒细胞增多症，伴有全身不适、呼吸困难发作、咳嗽以及血管性水肿发作和相关吞咽问题；一名21岁男性被诊断为持续性嗜酸性粒细胞增多症，伴有视力问题、呼吸困难、疲劳、食欲减退、体重减轻和胃肠道问题。两人均患有嗜酸性粒细胞增多综合征（一种罕见疾病）且伴有器官损害。两名患者的荧光原位杂交（FISH）检测均显示融合基因FIP1L1-PDGFRA（FIPI样-1-血小板衍生生长因子受体α）为阴性。女性患者的疾病对口服皮质类固醇或伊马替尼均无反应，但对羟基脲有反应。男性患者先后接受了泼尼松、干扰素α和羟基脲治疗。尽管如此，他的嗜酸性粒细胞增多仍有进展，但对伊马替尼有部分反应。此外，该患者接受了来自其 HLA 相同妹妹的异基因非清髓性干细胞移植。对于伴有器官损害或器官功能障碍的持续性嗜酸性粒细胞增多症患者，若已排除嗜酸性粒细胞增多的所有继发原因，则可诊断为嗜酸性粒细胞增多综合征。补充检查应包括细胞遗传学和克隆分析，以排除血液系统恶性肿瘤。泼尼松、羟基脲、干扰素α和有前景的伊马替尼都是治疗选择。
