TY - JOUR T1 - Risk factors for survival in patients with von Hippel-Lindau disease JF - Journal of Medical Genetics JO - J Med Genet SP - 322 LP - 328 DO - 10.1136/jmedgenet-2017-104995 VL - 55 IS - 5 AU - Jiang-Yi Wang AU - Shuang-He Peng AU - Teng Li AU - Xiang-Hui Ning AU - Sheng-Jie Liu AU - Bao-An Hong AU - Jia-Yuan Liu AU - Peng-Jie Wu AU - Bo-Wen Zhou AU - Jing-Cheng Zhou AU - Nie-Nie Qi AU - Xiang Peng AU - Jiu-Feng Zhang AU - Kai-Fang Ma AU - Lin Cai AU - Kan Gong Y1 - 2018/05/01 UR - http://jmg.bmj.com/content/55/5/322.abstract N2 - Background Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype–phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the median survival of Chinese patients with VHL disease and explore whether VHL survival is influenced by genetic and clinical factors.Methods In this retrospective study, we recruited 340 patients from 127 VHL families. Kaplan-Meier plot and Cox regression model were used to evaluate the median survival and assess how survival was influenced by birth year, birth order, sex, family history, mutation type, onset age and first presenting symptom.Results The estimated median life expectancy for Chinese patients with VHL disease was 62 years. Patients with early-onset age, positive family history and truncating mutation types had poorer overall and VHL-related survival. Patients with haemangioblastoma as their first presenting symptom were related to a higher risk of death from central nervous system haemangioblastoma than those with abdominal lesions (HR 8.84, 95% CI 2.04 to 38.37, P=0.004).Conclusions This largest VHL survival analysis indicates that onset age, family history, mutation type and first presenting symptom have an effect on the survival of patients with VHL disease, which is helpful to genetic counselling and clinical decision-making. ER -