title: Epidemiological study of a von Hippel-Lindau family in northwest China.
abstract: von Hippel-Lindau (VHL) disease is a rare, inherited neoplastic disease characterized by hemangioblastomas (HBL) of the central nervous system (CNS), retinal angiomas, renal cell carcinomas (RCC), pancreatic endocrine tumors (PETs), pheochromocytomas, paragangliomas, and visceral cysts. We encountered a large VHL family in northwest China and conducted a systematic screening of the family members based on their epidemiological and clinical characteristics. A self-designed questionnaire was used to collect the general sociodemographic and health information of the family members. For the preliminary family screening, physical examination and abdomen B ultrasonography were performed. The suspected patients were subjected to cranial computerized tomography and fundus examination. The clinical data of the patients with confirmed VHL disease were collected from hospital records. A total of 63 lineal descendants in six generations were observed in the family (generations O, A, B, C, D, E), including 9 dead suspected cases (6 males, 3 females) and 10 living cases (2 males, 8 females). Among the 10 living cases, 4, 2, 1, 3, 4, 8, and 2 manifested HBLs of the CNS, PETs, RCC, pancreatic cysts, renal cysts, pheochromocytomas (4 hemi and 4 bilateral), and paragangliomas, respectively. Data showed that the morbidity of VHL disease in generation C was lower than that in generation B, but the age of onset was younger. This study is the first to report VHL disease in northwest China and VHL-associated PET cases in Chinese. Therefore, follow-up checkups of the family should be focused on younger generations. Proper family screening protocols should be followed for the treatment of patients with VHL disease.
authors.affiliation: Department of Hepatobiliary Surgery, the First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, 710061, China.
authors.forename: Jingyao
authors.initials: J
authors.lastname: Zhang
authors.forename: Dapeng
authors.initials: D
authors.lastname: Wu
authors.forename: Hong
authors.initials: H
authors.lastname: Ai
authors.forename: Jigang
authors.initials: J
authors.lastname: Bai
authors.forename: Shunbin
authors.initials: S
authors.lastname: Dong
authors.forename: Qinling
authors.initials: Q
authors.lastname: Yang
authors.forename: Kai
authors.initials: K
authors.lastname: Qu
authors.forename: Lei
authors.initials: L
authors.lastname: Zhou
authors.forename: Xinsen
authors.initials: X
authors.lastname: Xu
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011795:Surveys and Questionnaires; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality