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Von Hippel-Lindau Disease
VHL syndrome; VHL; Von Hippel-Lindau syndrome
Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood.
Hippel angiogram
Image by AFIP Atlas of Tumor Pathology / Dr. Stephen C. Pollack, Durham, NC.
Von Hippel-Lindau Disease
Image by National Eye Institute of the NIH
Source: Genetic and Rare Diseases (GARD) Information Center
Von Hippel-Lindau Disease
Image by Terese Winslow (Illustrator) / NCI
Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas—benign tumors with many blood vessels—may develop in the:
Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include:
Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.
Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. This pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. The Food and Drug Administration has approved belzutifan (Welireg) to treat adults with central nervous system hemangioblastomas and certain other tumors not requiring immediate surgery. Treatment of most VHL cases usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
Prognosis depends on then number, location, and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment, the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.
Source: National Institute of Neurological Disorders and Stroke (NINDS)
Locations of cysts and tumors in Von Hippel–Lindau disease
Image by Schunemann V, Huntoon K, Lonser RR/Wikimedia
Source: Genetic and Rare Diseases (GARD) Information Center
HIF and pVHL
Image by Simon Caulton/Wikimedia
Source: Genetic and Rare Diseases (GARD) Information Center
Autosomal Dominant and Baby
Image by TheVisualMD / Domaina
Source: Genetic and Rare Diseases (GARD) Information Center
Hippel angiogram
Image by AFIP Atlas of Tumor Pathology / Dr. Stephen C. Pollack, Durham, NC.
Source: Genetic and Rare Diseases (GARD) Information Center
Radiation treatment
Image by U.S. Air Force photo/Staff Sgt. Russ Scalf
Source: Genetic and Rare Diseases (GARD) Information Center
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