Risk factors for survival in patients with von Hippel-Lindau disease

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von Hippel-Lindau (VHL) disease is a rare hereditary kidney cancer syndrome characterized by a poor survival. Although genotype-phenotype correlation has been described in many studies, the risk factors for VHL survival remains unclear. This study aims to evaluate the median survival of Chinese VHL patients, and explore whether VHL survival is influenced by genetic and clinical factors.


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.


The estimated median life expectancy for Chinese VHL patients was 62 years. Patients with early onset age, positive family history and truncating mutation types had poorer overall and VHL-related survival. Patients with hemangioblastoma as their first presenting symptom were related to higher risk of death from central nervous system hemangioblastoma than those with abdominal lesions (HR=8.84, 95% CI 2.04 to 38.37, p=0.004).


This largest to date VHL survival analysis indicates that onset age, family history, mutation type and first presenting symptom have an effect on the survival of VHL patients, which is helpful to genetic consulting and clinical decision making.

Funding: This work was supported by the National Natural Science Foundation of China (grant number: 81572506), Beijing Municipal Science and Technology Commission (grant number Z151100003915126) and Beijing Municipal Commission of Health and Family Planning (grant number 2016-2-4074).