According to a recent article, a new study shows a daily oral dose of Belzutifan may keep patients diagnosed with von Hippel-Lindau disease from needing surgery by shrinking tumors.

Von Hippel-Lindau (VHL) Syndrome

Von Hippel-Lindau syndrome, or VHL, is a rare inherited disorder that is characterized by the formation of tumors and cysts in different parts of the body. These tumors and cysts are typically developed in the retinal, brain, spine kidneys, pancreas, adrenal, endolymphatic sac (inner ear), and genital tract, but have the potential to occur in up to ten different parts of the body. The tumors are highly vascularized, appearing as knots formed by tiny blood vessels. They can be either cancerous or noncancerous.

People with VHL syndrome are also at an increased risk for developing renal cell carcinoma (RCC) and pancreatic neuroendocrine tumors (pNETs).

VHL Manifestations:

The age of onset of VHL manifestations varies from family to family, and even from individual to individual. The average age of first manifestation is in the early 20’s, but can occur earlier in life or into one’s middle age. The most common manifestation of VHL is hemangioblastomas in the retina, brain, or spine. Even though the tumors are benign, the brain and spine tumors and/or cysts can exert pressure on the brain or spinal cord, causing additional symptoms such as headaches, balance problems, and vision problems. Adrenal tumors can cause high blood pressure, panic attacks, heavy sweating, digestive problems. Retinal tumors can lead to blindness, and endolymphatic sac tumors can result in loss of hearing and balance problems. Depending on location, pancreatic tumors can lead to changes in pancreatic function.

Diagnosis:

The only way to diagnose VHL is with genetic testing. Nearly all people with VHL will be found to have a genetic mutation in their VHL gene once tested.

VHL is suspected when a person has:

• Multiple hemangioblastomas of the brain, spinal cord, or eye, or
• 1 hemangioblastoma and clear cell kidney cancer, pancreatic cysts, pheochromocytoma, endolymphatic sac tumor, or a epididymal cyst
• In young patients, VHL is also suspected with multiple bilateral clear cell renal cell carcinoma, meaning cancer in both kidneys

If a person has a family history of this disease, they are suspected of also having VHL if they also have any 1 symptom, such as hemangioblastoma, kidney or pancreatic cysts, pheochromocytoma, or kidney cancer.

The Study

Typically, surgical procedures such as invasive kidney and brain surgery were the only plausible options for patients with VHL disease that produce tumors. However, an international single-group study of 61 people was conducted in order to find alternative treatment options. The study was recently published, and the research shows that Belzutifan can shrink tumors.

Belzutifan

Belzutifan is an orally-taken drug that targets the molecular defect present in the VHL gene. The drug has shown to have an anti-cancer effect, meaning it shrinks tumors and is thought to have a long lasting effect. The drug does produce a few minor side effects such as anemia and fatigue.

Importance

Patients with VHL disease can be at high risk of losing their vital organ functions because of their tumors. Furthermore, they can be at risk of losing organ function from having to undergo major surgery. Therefore, Belzutifan is providing hope for patients who are diagnosed to not have to undergo major surgeries and risk the loss of their organ functions.