Ashley Colburn began losing her vision in childhood and became completely blind at fourteen years old. You see, Ashley has a rare inherited disorder called von Hippel-Landau syndrome (VHL), which causes tumor and cyst formation throughout the body. These most commonly form in the eyes, brain, adrenal glands, spine, kidneys, inner ear, and pancreas. For Ashley, her vision loss resulted from benign tumors in her retinas. But, shares WQAD8 in their story about Ashley, she began experiencing other health challenges in 2017. Whenever she stood up too quickly, the back of her neck ached. Eventually, doctors discovered that Ashley had developed multiple brain tumors related to her VHL.
Ashley underwent surgery for her tumors. Since she was, at the time, a newlywed, Ashley hoped that this would allow her to continue peacefully on her married journey. Surgical intervention was the only therapeutic option for VHL. Ashley seemed to recover well. But within the past two years, her head began aching again.
However, this time, surgery was NOT her only option. In August 2021, the U.S. Food and Drug Administration (FDA) approved Welireg (belzutifan) for tumors associated with VHL. Ashley’s doctor, Dr. Iliopoulos, wanted to see whether Welireg could shrink Ashley’s tumors. Soon after its approval, Ashley began her Welireg treatment regimen. Within just five weeks, Ashley’s tumors had become one-third smaller. Dr. Iliopoulos also saw similar benefits in other patients with VHL.
For Ashley, all she knows is that she will continue on the drug for as long as it confers these benefits.
Welireg (belzutifan): An Overview
The FDA describes Welireg (belzutifan) as:
a hypoxia-inducible factor inhibitor indicated for treatment of adult patients with VHL who require therapy for associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumors (pNET), not requiring immediate surgery.
Welireg is administered orally, and the recommended dose is 120mg once daily. Adverse reactions include anemia (low red blood cell count), fatigue, headache, nausea, dizziness, increased blood glucose and creatinine, and decreased hemoglobin counts.
What is von Hippel-Lindau (VHL) Syndrome?
Von Hippel-Lindau syndrome (VHL), which may also be called von Hippel-Lindau disease, results from VHL gene mutations. This mutation is inherited in an autosomal dominant pattern, meaning patients must inherit only one defective gene. However, about 20% of people with VHL have no family history of this disorder. VHL is a variable condition, with symptoms, manifestation, and age of manifestation varying from person-to-person. The average age of the first manifestation is in early adulthood (20s), though it can occur earlier or late. Characteristics and symptoms can include:
- Hemangioblastomas
- Headache
- Impaired vision
- Problems with balance and coordination
- Muscle weakness
- Hematuria (blood in the urine)
- Abdominal pain
- Panic attacks
- Excessive sweating
- Neck pain
- High blood pressure
- Renal cell carcinoma
This is not a comprehensive list of all associated symptoms and characteristics.
