VHL disease is a genetic, lifelong condition
with recurrent multi-organ manifestations1,5–7
VHL gene mutations predispose patients to the development of cysts and tumors in several systems and organs.1,5
- Cysts and tumors can grow
and negatively affect the
organs and structures
around them.3 - Some tumors, such as those
found in the kidneys and
pancreas, may become
cancerous.1,3
VHL disease affects 1 in 36,000 live births1
While the average age of VHL disease onset is 26 years old, manifestations of the disease can appear in individuals as young as 1 year old.5,6
Review diagnostic criteria >References: 1. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of
von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20–29. 2. Ploussard G,
Droupy S, Ferlicot S, et al. Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease.
Urology. 2007;70(3):435–439. 3. VHL Alliance. What is VHL? Kidney cysts and renal cell carcinoma. https://www.vhl.org/patients/what-is-vhl/. Accessed December 18, 2023. 4. US Food and Drug Administration. Rare diseases at FDA. https://www.fda.gov/patients/rare-diseases-fda. Accessed February 6, 2024.
5. National Organization for Rare Disorders. Von Hippel-Lindau Disease. https://rarediseases.org/rare-diseases/von-hippel-lindau-disease/. Accessed November 13, 2023.
6. Ganeshan D, Menias CO, Pickhardt PJ, et al. Tumors in von Hippel–Lindau syndrome: from
head to toe—comprehensive state-of-the-art review. RadioGraphics. 2018;38(3):849–866.
7. Larcher A, Belladelli F, Fallara G, et al. Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: a practical review of the literature for clinicians. Asian J Urol. 2022;9(4):430–442.
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