Is Von Hippel-Lindau Disease Rare?
Yes, Von Hippel-Lindau (VHL) disease is classified as a rare disease, with an estimated incidence of approximately 1 in 36,000 live births and a prevalence of 1 in 46,900 individuals. 1, 2
Epidemiological Data
The birth incidence ranges from 1 in 27,300 to 1 in 45,500 live births across different populations, with the most commonly cited figure being 1 in 36,000. 3, 2, 4, 5
The prevalence in Europe is estimated at 1-9 per 100,000 individuals, making it an orphan disease by standard definitions. 4
VHL is significantly underdiagnosed, with many families not receiving genetic counseling or prophylactic surveillance despite meeting clinical criteria. 2
Clinical Significance Despite Rarity
While VHL is rare in absolute numbers, it represents one of the most common inherited neoplasia syndromes among hereditary cancer conditions. 6
Lifetime penetrance approaches 100% by age 75, meaning virtually all mutation carriers will develop manifestations if they live long enough. 1, 7
Approximately 80% of cases are inherited from an affected parent, while 20% arise from de novo mutations, which means absence of family history does not exclude the diagnosis. 8, 1
Impact on Morbidity and Mortality
Despite being rare, VHL has profound clinical consequences:
Historically, median life expectancy was only 49 years, though recent data suggests improvement to 60-67 years for those born in 2000 due to better surveillance and treatment. 8, 2
VHL-related tumors were the cause of death in 79% of affected individuals in historical cohorts, with renal cell carcinoma, CNS hemangioblastomas, and pancreatic neuroendocrine tumors being the primary causes of mortality. 8
Vision loss occurs in approximately 20% of patients from retinal hemangioblastomas if not detected and treated early. 1