From the Guidelines
The life expectancy of patients with Von Hippel-Lindau (VHL) disease has increased in recent decades, with estimated mean life expectancies for male and female individuals with VHL disease born in 2000 being 67 and 60 years, respectively. This improvement is likely due to advancements in early diagnosis, surveillance, and treatment of the disease 1. VHL is an autosomal dominant genetic disorder caused by mutations in the VHL tumor suppressor gene, leading to the development of multiple benign and malignant tumors throughout the body. The most life-threatening complications include renal cell carcinoma, hemangioblastomas of the central nervous system and retina, pheochromocytomas, and pancreatic neuroendocrine tumors.
Key Factors Affecting Life Expectancy
- Early detection through regular surveillance starting from childhood, including MRI scans of the brain and spine, retinal examinations, abdominal imaging, and blood and urine tests, can significantly improve outcomes 1.
- Prompt treatment of tumors, particularly small extrapapillary or extramacular retinal hemangioblastomas, can prevent complications and improve vision 1.
- Advances in treatment protocols, such as the use of oral small-molecule HIF2-a inhibitors, may further improve life expectancy and outcomes for patients with VHL disease 1.
Importance of Regular Surveillance
- Regular surveillance is crucial for early detection and treatment of tumors, and can significantly improve outcomes for patients with VHL disease 1.
- Ocular screening should begin within 12 months after birth and continue throughout life, with the frequency of screening depending on the individual's risk factors and previous examination results 1.
- Patients with VHL disease should be managed by a multidisciplinary team with experience in the disease, and should have access to genetic testing and counseling 1.
From the Research
Life Expectancy in VHL Patients
- The life expectancy of patients with Von Hippel-Lindau (VHL) disease has been reported to be lower than that of the general population, with a median life expectancy of 49 years 2.
- However, with improvements in surveillance, tumor diagnosis, and treatment approaches, life expectancy is expected to increase, with estimated mean life expectancy of 67 years for men and 60 years for women born in 2000 2.
- Another study reported a life expectancy of 40-52 years for VHL patients, despite advances in early diagnosis and management of the disease 3.
- A more recent study estimated the median life expectancy for affected offspring of VHL patients to be 66 years, with a median age of onset of 28 years 4.
- The estimated median life expectancy for Chinese patients with VHL disease was reported to be 62 years, with patients having early-onset age, positive family history, and truncating mutation types having poorer overall and VHL-related survival 5.
Factors Influencing Life Expectancy
- Age, sex, genotype, tumor location, and pregnancy have been found to influence the risk of new VHL manifestations and life expectancy 2.
- Patients with truncating mutations have been found to have higher rates of new manifestation diagnosis than those with missense mutations 2.
- Men tend to have higher manifestation rates in adulthood compared to women, and pregnancy has been associated with a lower frequency of new manifestations 2.
- The first presenting symptom has been found to be an independent risk factor influencing overall survival and central nervous system hemangioblastoma-specific survival, with patients presenting with central nervous system symptoms having a lower life expectancy 4, 5.
- Onset age, family history, mutation type, and first presenting symptom have been found to have an effect on the survival of patients with VHL disease, which can inform genetic counseling and clinical decision-making 5.