Von Hippel-Lindau Disease

      This in-depth guide to Von Hippel-Lindau (VHL) disease, a rare condition that causes cysts and tumors to develop throughout the body, offers insights on treatment and disease management from leading doctors in the field.

      Understanding Von Hippel-Lindau Disease

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      How is VHL Diagnosed?

      A patient may be diagnosed with VHL disease after displaying some symptoms or when a genetic test reveals a mutation in the VHL gene.

      If a doctor suspects VHL disease, tests they may use to diagnose it include:

      • An MRI of the brain and spinal cord
      • Fundoscopy (a test that allows doctors to see inside the fundus of the eye)
      • Ultrasound examination or MRI of the abdomen
      • Blood and urinary catecholamine metabolites (which checks for high hormone levels that could be a sign of rare adrenal tumors)

      Managing Von Hippel-Lindau Disease

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      • DNA testing is the most conclusive way to determine if someone has VHL.
      • Treatment options vary because of the wide range of possible manifestations of the disease.
      • Belzutifan was approved for certain VHL patients in 2021, and offers hope for some fighting the disease.

      Managing Von Hippel-Lindau Disease

      • DNA testing is the most conclusive way to determine if someone has VHL.
      • Treatment options vary because of the wide range of possible manifestations of the disease.
      • Belzutifan was approved for certain VHL patients in 2021, and offers hope for some fighting the disease.

      What are the Treatment Options?

      Treatment for VHL depends on the location and size of the tumors. VHL has no known cure, but the general goal of treatment is to find and remove tumors as soon as possible, before they begin to affect a patient’s health.

      Some people may need surgery to remove the tumors. Radiation may also be used in some instances.

      All people who are diagnosed with VHL will need to be monitored on a regular basis by their doctors so any new tumors or related symptoms can be treated.

      Dr. Craig Rogers, Chair of Urology at Henry Ford Health, explains treatment options for managing VHL.

      “Right now our main goals are to identify patients with VHL and to closely monitor them for these tumors, so we can pick up on tumors that are going to become a problem, and either remove them or start medication to suppress them,” Dr. Rogers says.

      Also, just last year, the FDA approved the drug belzutifan for adult VHL patients who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery.

      While the drug can’t be used in all cases, it is a great option for some people with VHL.

      “I think the opportunity that we can treat patients with VHL-related tumors with other means than surgery is probably one of the greatest things that I've experienced during my professional life working with patients with VHL,” Dr. Tobias Else, an endocrinologist who leads the Comprehensive Clinical Care Center for Von Hippel-Lindau disease at the University of Michigan Health Rogel Cancer Center, tells SurvivorNet.

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