Neumann H P, Dinkel E, Brambs H, Wimmer B, Friedburg H, Volk B, Sigmund G, Riegler P, Haag K, Schollmeyer P
Department of Medicine, University of Freiburg, Germany.
Gastroenterology. 1991 Aug;101(2):465-71. doi: 10.1016/0016-5085(91)90026-h.
Common manifestations of the von Hippel-Lindau syndrome, an autosomally dominant inherited cancer-prone disorder, include retinal angiomatosis, hemangioblastoma of the central nervous system, renal cysts, renal cancer, pheochromocytoma, and epididymal cystadenoma. Multiple cysts and microcystic (serous) cystadenomas of the pancreas have also been reported occasionally in patients afflicted with this syndrome. In the large Freiburg study of the von Hippel-Lindau syndrome composed of 66 affected individuals, pancreatic lesions were systematically studied. Fifty-five living individuals were examined by abdominal ultrasound imaging. Abnormal findings were confirmed by computed tomographic scan and/or magnetic resonance imaging. For an additional 11 decreased patients autopsy data were available. Cystic lesions of the pancreas were found in 10 patients (15%). One of these patients presented with multiple pancreatic cysts as the only manifestation of the syndrome. In one patient, a malignant islet-cell tumor was found at autopsy. Because multiple pancreatic cysts did not cause major clinical symptoms and because follow-up examinations over an average period of 5 years did not show significant progression of the lesions, it is concluded that these patients usually do not require surgical treatment. Abdominal ultrasound screening is recommended for patients at risk as a tool to identify potential von Hippel-Lindau syndrome gene carriers with pancreatic manifestations. In all patients with multiple pancreatic cysts, the von Hippel-Lindau syndrome should be included in the differential diagnosis.
希佩尔-林道综合征是一种常染色体显性遗传的易患癌疾病，其常见表现包括视网膜血管瘤、中枢神经系统血管母细胞瘤、肾囊肿、肾癌、嗜铬细胞瘤和附睾囊腺瘤。偶尔也有报道称，患有该综合征的患者会出现胰腺多发囊肿和微囊性（浆液性）囊腺瘤。在弗赖堡对66名受影响个体进行的关于希佩尔-林道综合征的大型研究中，对胰腺病变进行了系统研究。55名在世个体接受了腹部超声成像检查。异常发现通过计算机断层扫描和/或磁共振成像得到证实。另外11名已故患者有尸检数据。10名患者（15%）发现有胰腺囊性病变。其中一名患者仅以胰腺多发囊肿作为该综合征的唯一表现。一名患者在尸检时发现了恶性胰岛细胞瘤。由于胰腺多发囊肿未引起主要临床症状，且平均5年的随访检查未显示病变有明显进展，因此得出结论，这些患者通常不需要手术治疗。建议对有风险的患者进行腹部超声筛查，作为识别有胰腺表现的潜在希佩尔-林道综合征基因携带者的一种手段。对于所有有胰腺多发囊肿的患者，鉴别诊断时应考虑希佩尔-林道综合征。
