Idiopathic hypereosinophilic syndrome (HES) is a rare disorder characterized by peripheral eosinophilia exceeding 1500/mm3, a chronic course, absence of secondary causes, and signs and symptoms of eosinophil-mediated tissue injury. One of the best-characterized forms of HES is the one associated with FIP1L1-PDGFRA gene rearrangement, which was recently demonstrated as responsive to treatment with the small molecule kinase inhibitor drug, imatinib mesylate. Here, we describe the case of a 51-year-old male, whose symptoms satisfied the clinical criteria for HES with cutaneous and cardiac involvement and who also presented with vasculitic brain lesions and retroperitoneal bleeding. Molecular testing, including fluorescence in situ hybridization, of bone marrow and peripheral blood showed no evidence of PDGFR rearrangements. The patient was initially treated with high-dose steroid therapy and then with hydroxyurea, but proved unresponsive to both. Upon subsequent initiation of imatinib mesilate, the patient showed a dramatic improvement in eosinophil count and progressed rapidly through clinical recovery. Long-term follow-up confirmed the efficacy of treatment with low-dose imatinib and with no need of supplemental steroid treatment, notwithstanding the absence of PDGFR rearrangement.
展开▼
机译:特发性嗜酸性粒细胞增多症(HES)是一种罕见的疾病,其特征在于周围性嗜酸性粒细胞增多,超过1500 / mm 3 sup>,是一个慢性病程,没有继发性原因,且嗜酸性粒细胞介导的组织损伤的症状和体征。 HES最具特征性的形式之一是与FIP1L1-PDGFRA基因重排有关的形式,最近被证明可响应小分子激酶抑制剂药物甲磺酸伊马替尼的治疗。在这里,我们描述了一个51岁男性的病例,该男性患者的症状满足皮肤和心脏受累的HES的临床标准,并且还出现了血管性脑损伤和腹膜后出血。骨髓和外周血的分子检测,包括荧光原位杂交,均未显示PDGFR重排的迹象。该患者最初接受大剂量类固醇治疗,然后接受羟基脲治疗,但事实证明对这两种方法均无反应。随后开始使用伊马替尼甲磺酸盐时,患者的嗜酸性粒细胞计数显着改善,并通过临床恢复迅速进展。长期随访证实了低剂量伊马替尼的治疗效果,并且尽管没有PDGFR重排,也无需补充类固醇治疗。
展开▼