VHL: New Drug for Genetic Disease Shrinks Tumors


BOSTON, Mass. (Ivanhoe Newswire) – Von Hippel-Lindau disease is an inherited condition named after the two European scientists who discovered it. VHL puts people at higher risk of cancerous and benign tumors in multiple organs, including the kidneys, pancreas, spine, and brain. Until last year, surgical removal of the tumors was the only treatment, but now, a newly approved therapy may help people with VHL avoid repeated, dangerous surgeries.

From learning to play “Stairway to Heaven” to planning her wedding, 33-year-old Ashley Colburn doesn’t step away from a challenge even though she’s been completely blind since she was 14.

Ashley has the genetic condition Von Hippel-Lindau disease, or VHL, which caused non-cancerous tumors to form in her retinas. VHL also means a high risk of other tumors. Ashley started showing additional symptoms in 2017.

“I felt ribbons of pain pulsing in the back of my neck when I stood up too fast,” Ashley recalls.

Then, more tumors formed in her brain.

Mass. General Cancer Center medical oncologist, Dr. Othon Iliopoulos, MD says, “If not treated, it’s fatal.”

(Read Full Interview)

Brain surgery was followed by recovery and Ashley went on to life as a newlywed. Then, about 18 months ago, a sudden, familiar pounding in the back of her head.

Dr. Iliopoulos was about to schedule Ashley for another brain surgery when doctors learned a new drug designed to shrink VHL tumors was close to approval. It’s called belzutifan, also known as Welireg.

“We can treat the patients and save them from having the craniotomy,” Dr. Iliopoulos adds.

In August 2021, Ashley began taking three pills a day. Five weeks after she started, the drug shrunk her brain tumors by more than a third. And for Ashley and her husband Patrick, clearly a life-changer.

Dr. Iliopoulos says of the 19 VHL patients he treated with the drug, all had tumor shrinkage. Ashley says she’ll remain on the drug as long as it continues to keep her tumors from growing.

Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.

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REPORT:       MB #5159

BACKGROUND: Von Hippel-Lindau disease, or VHL, is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemangioblastomas – benign tumors with many blood vessels – may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. VHL disease effects 1 in 36,000 people (10,000 cases in the U.S and 200,000 cases worldwide) and 20 percent of patients are first-in-family or de novo cases. If one parent has the mutated gene, their child has a 50 percent chance of being born with the mutation. Nearly 97% of people who have the mutated gene will have symptoms of VHL by the time they are 65 years old. It affects people of all genders and ethnicities.

(Sources: https://www.ninds.nih.gov/health-information/disorders/von-hippel-lindau-disease-vhl#:~:text=Von%20Hippel%2DLindau%20disease%20(VHL)%20is%20a%20rare%2C,and%20near%20the%20inner%20ear.



DIAGNOSING: VHL-related tumors can grow in many different parts of the body. Depending on the size and location of tumors, you may experience symptoms such as headaches, hearing loss of ringing in the ears, high blood pressure, loss of balance, loss of muscle strength or coordination, vomiting, and/or vision problems. The only way to confirm VHL is by genetic testing to see if you have the gene mutation. Your provider may use imaging tests, such as an MRI or ­CT scan, to find and diagnose tumors.

(Source: https://my.clevelandclinic.org/health/articles/6118-von-hippel-lindau-disease-vhl)

NEW TECHNOLOGY: A new drug recently approved by the Food and Drug Administration (FDA) may help people with VHL avoid or delay surgery by shrinking their tumors. On August 13, FDA approved belzutifan (Welireg) to treat adults who have several tumors associated with VHL. Specifically, the drug is approved to treat VHL-associated renal cell carcinoma (a type of kidney cancer), central nervous system hemangioblastomas (a type of noncancerous tumor that forms in the brain or spinal cord), and pancreatic neuroendocrine tumors (a rare type of cancer in the pancreas) that don’t require immediate surgery.

(Source: https://www.cancer.gov/news-events/cancer-currents-blog/2021/fda-belzutifan-vhl-tumors)


Katie Marquedant

(617) 726-0337


If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com

Doctor Q and A

Read the entire Doctor Q&A for Dr. Othon Iliopoulus, MD, Medical Oncologist

Read the entire Q&A