Genetic Disorder Reference Sheet: Von Hippel-Lindau Syndrome

April 11, 2022 by Suzanne Mahon RN, DNSc, AOCN®, AGN-BC

An inherited disorder characterized by the formation of benign and malignant tumors and cysts throughout the body, Von Hippel-Lindau syndrome (VHL) occurs with an altered VHL tumor suppressor gene with autosomal dominant transmission. Estimated incidence is 1 in 36,000 people, both males and females equally, and the mean age of onset is 26 years. About 20% of patients with VHL are the first person in their family to have the pathogenic variant (i.e., de novo). The diagnosis is made with germ­line biomarker testing.

Cancer Risks

VHL is associated with a variety of diseases, many of which are rare. See the sidebar for incidence rates of known association. The presence of one or more of those diseases, especially as a major feature, or a family member with a known pathogenic VHL variant, should trigger referral to a genetics professional for further evaluation. Because screening begins in infancy, testing for a known familial pathogenic variant is done at birth.

Prevention and Early Detection

People with VHL require lifelong screening, ideally with a team of specialists that is familiar with its symptoms and management, to detect problems when they are most easily treated. Screening recommendations change as patients age:

In addition to identifying patients for germline biomarker testing, nurses can provide patients and families with education about prevention and detection, including:

Treatment Options

Large or malignant tumors typically require surgery or radiotherapy. Kidney tumor resection, ideally nephron-sparing surgery or partial nephrectomy to preserve kidney function, is generally considered when the largest tumor reaches 3 cm

In August 2021, the U.S. Food and Drug Administration approved belzutifan as first-line therapy for VHL-associated renal cell carcinoma, central nervous system hemangioblastomas, or pancreatic neuroendocrine tumors not requiring immediate surgery. Belzutifan is an inhibitor that targets hypoxia-inducible factor 2-alpha, which drives growth of malignant and benign VHL tumors.

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