Learning about Von Hippel-Lindau (VHL) disease
- Von Hippel-Lindau (VHL) disease is a rare genetic condition that can cause one or many cysts or tumors to form in many organs throughout the body. These tumors can be cancerous or benign (noncancerous).
- No one thinks the Hatfield–McCoy feud was fully caused by this condition, but some people think the McCoy family’s infamous temperament was partly caused by the fact that multiple family members had von Hippel-Lindau (VHL) disease.
- The disease is caused by a mutation of the VHL gene, which is a tumor suppressor gene. People who have a parent with VHL have a 50 percent chance of inheriting the disease.
- Symptoms of VHL can occur at any time. It is impossible to predict exactly how the disease will present or progress for any particular person, which makes regular surveillance exceedingly important for people living with VHL.
The long-running battle between the Hatfield and McCoy families dated back to Civil War times in the 1860s. The two families fights over land, timber rights and even a pig are the subject of dozens of books, songs and jokes from American folklore.Read More
The Hatfield–McCoy Feud And VHL
Dozens of McCoy descendants apparently have VHL, and a 2007 CBS News interview seems to suggest that the condition could have made the McCoy’s more likely to act out.
“This condition can certainly make anybody short-tempered, and if they are prone because of their personality, it can add fuel to the fire,” said Dr. Revi Mathew, a Vanderbilt University endocrinologist that was treating one of the family members at the time of the interview with CBS.
Roughly three-fourths of the affected McCoys, according to CBS News, have pheochromocytomas (noncancerous tumors in the adrenal glands).
One of the main signs of pheochromocytomas (PCC) in patients with VHL disease is an increase in blood pressure and heart rate that can last for minutes or even hours.
And whether or not that could have played a part in the infamous McCoy temperament is dubious at best, but it gives us a chance to take a look at this rare, incurable disease that only occurrs about once in every 36,000 people.
What Is The Disease That Plagued Some Of The McCoy Family?
Von Hippel-Lindau Disease (VHL) is a genetic condition characterized by tumors, either cancerous or noncancerous, and cysts arising in various parts of the body. Some patients with von Hippel-Lindau syndrome have many tumors, and others just have a few. The number and location of tumors vary greatly between patients.
This condition occurs due to an autosomal dominant genetic mutation, or deletion, in the VHL gene, which is a tumor suppressor gene. Everyone has two copies of the VHL gene, one from each parent. It only takes one mutated copy to cause VHL disease. Normally, when this tumor suppressor gene works properly, it keeps the growth of cancerous and noncancerous tumors in check.
However, if this gene is mutated, the body no longer has that control. There is an increase in growth factors, and new blood vessels can readily form. The tumors can then grow uninhibited by this tumor suppression mechanism. Typically, VHL disease is passed down to the child from a family member, as the VHL gene is hereditary. If either parent has VHL, there is a 50% chance their child will also have it. This is the situation in the majority of VHL cases.
“Almost all people who have a mutated version of the VHL gene that was passed down from their family will develop von Hippel-Lindau disease,” according to Dr. Craig Rogers, Chair of Urology, Henry Ford Health.
However, approximately 20% of VHL patients are the first in their families to have VHL. This means that the mutation was not inherited. Rather, it occurred in the germ cell or embryo before they were born. This is referred to as a de novo mutation. In this case, the mutation is random, as there are no known factors or environmental causes that are connected to VHL. All patients with VHL either inherited the disease from a parent or had a random, de novo mutation when their genetic makeup was first determined.
The average age for VHL to first present itself is 26 years of age, and approximately 97% of people with the mutation will experience complications related to the disease by the time they are 65 years old.
Because the location and extent of the tumor(s) can differ, there is not a specific set of symptoms experienced by most patients, and the symptom burden will vary between individuals. And though some families may see a predominant tumor type, the manifestation of the condition can be different between family members. One person in the family may even have manifestations that do not harm anything and just need to be monitored, while another has a malignant disease. Since there are no specific symptoms to monitor, patients with VHL should continually have routine surveillance to check for new tumor growth. Some examples of symptoms include the following:
- Balance issues when walking or muscle weakness from brain tumors
- Blindness from eye tumors
- Blood in the urine from cancerous kidney tumors
- Hearing or balance issues from inner ear tumors
- High blood pressure, heart palpitations, sweating and turning pale from adrenal gland tumors.
- Pain in the abdominal region from pancreas tumors
Although von Hippel-Lindau disease is considered incurable, treatment options and the way VHL is managed continue to advance. Patients with the disease are being identified and frequently screened for new tumor growth so such tumors can be removed or treated early in disease progression. With appropriate surveillance and treatment, the prognosis of VHL can be better than many other common cancer types. The new drug approval of belzutifan (Welireg®) also gives hope to patients with certain VHL tumor types. Clinical trials for this genetic condition are ongoing.
As is the case with most rare genetic diseases, patients with VHL have been shown to have higher levels of stress and anxiety than the general population. The VHL Alliance provides a list of different types of support groups that could help alleviate some of the mental and emotional stress caused by the disease. The VHL Handbook is available to patients as well. It provides practical information for patients with this condition. Due to rigorous surveillance, patients with VHL have hope for the future.