What Is Von Hippel-Lindau Disease?

Von Hippel-Lindau disease, or VHL, is a rare genetic condition that causes tumors and cysts to develop in as many as 10 different areas of the body. The tumors are generally not cancerous, though some may be, and they may or may not cause symptoms. VHL is usually inherited, but there are people who develop it who have no family history of the disease.

This article discusses the symptoms, diagnosis, treatment, and prognosis for people with VHL.

VHL Disease Symptoms

Symptoms of VHL depend on the location of the growths throughout the body. Symptoms usually appear in a person's mid-20s.

The most common locations for VHL tumors are in the brain, spinal cord, and retina (the tissue in back of your eye that affects vision). These are benign tumors called hemangioblastomas.

The main locations and associated symptoms of VHL include:

• Brain and spinal cord: Headaches, numbness, back pain
• Eyes: Vision loss from detached retina, spots in vision
• Ears: Ringing in the ears, tinnitus, balance problems, hearing loss
• Pancreas: Pancreatitis, diabetes, jaundice
• Kidneys: High blood pressure, lower back pain, fatigue
• Adrenal glands: High blood pressure, panic attacks
• Reproductive organs: Pain in both men and women from possible rupture

People with VHL may be more likely to develop certain kinds of cancer, particularly kidney cancer.

What Causes VHL?

People with VHL are missing or have a mutation of the von Hippel-Lindau gene.

When the von Hippel-Lindau gene is functioning correctly, it helps keep tumors from developing by producing a protein that breaks down a substance called HIF. If HIF builds up in cells because the VHL gene has mutated or isn't there, it can trigger an overgrowth of cells and blood vessels, forming tumors and cysts.

Up to 80% of cases of VHL are inherited, with the rest appearing in people with no known family members with the condition. In these cases, the disease may be due to a mutation in the VHL gene that occurs after birth, rather than being inherited, known as a somatic mutation.

A person with a parent with VHL has a 50% chance of inheriting the disease. Prospective parents who have relatives with VHL can have genetic testing to see if they carry the gene.

How VHL Is Diagnosed

If you develop growths, cysts, or tumors in areas of the body where VHL is known to occur, your healthcare provider may suspect VHL.

VHL can be diagnosed through genetic testing or a simple blood test.

If the diagnosis is confirmed, your provider will order imaging tests like magnetic resonance imaging (MRI) or CT (computed tomography) scans to identify the location of growths in your body.

What Are the Treatment Options for VHL?

If you are diagnosed with VHL, your healthcare team will monitor you for new growths and tumors and remove them as necessary to minimize the impact on your health. Even if the growths are not cancerous, they can still lead to symptoms and affect your health. This type of monitoring is called "active surveillance."

This surveillance requires you to go to your follow-up, screening, and imaging appointments. These appointments may include:

• Physical examination
• MRI
• Blood pressure check
• Eye exam
• Urinalysis
• Hearing tests

Catching the growths early is essential to controlling VHL, so they can be removed before they cause damage.

If treatment is needed, it is likely to involve surgical removal of the tumors, when possible. Treatment may also include radiation therapy to shrink some of the masses.

Welireg (belzutifan) is a medication approved by the Food and Drug Administration (FDA) that may shrink some VHL tumors, including those found in the kidneys, pancreas, brain, and spine.

Prognosis

With advances in early detection and treatment, the prognosis for people with VHL has improved over time. Life expectancy for people with VHL have grown closer to those for their relatives who do not have the VHL mutation.

A 2017 research study showed that the average life expectancy was 60 years old for women and 67 years old for men. However, people can live with VHL into their 80s. Statistics do not represent each individual case.

Regardless of life expectancy, VHL is a serious disease. If there are tumors in the brain, retina, or kidneys, they may lead to blindness brain damage, cancer, or death.

Summary

Von Hippel-Lindau disease is a rare, inherited condition, in which a mutation or missing gene causes the body to create tumors and cysts. They are usually benign, but may be cancerous in some cases.

Depending on the location, VHL growths can cause symptoms such as vision problems, high blood pressure, back pain, headaches, and more.

People with VHL are closely monitored by a healthcare team to look for new tumors that may need to be treated. The objective is to catch them when they are small, before they can damage the person's health and function.

A Word From Verywell

The outlook for people with VHL has improved significantly in recent years. Because the VHL gene is associated with several types of cancer, research sometimes overlaps, bringing about new insights into and discoveries regarding VHL. With close monitoring and treatment when necessary, people with VHL can live fulfilling and healthy lives.