Von Hippel-Lindau Disease Details

Expanded Description

Prevalence

0.3 ( Per 100,000 Population ) [Source]

Causes

The condition called VHL is caused by a tiny misspelling in one of the two copies of the VHL gene in every cell of the body. This change is usually inherited from one parent. However, as many as 20% of people with VHL are the first person in their family ever to have VHL.

Disorder Symptoms

Symptoms vary depending which tumor occurs first. For a complete discussion, see http://vhl.org/handbook

We don't have any symptoms yet.

Diagnosis

Clinical diagnosis is made when an individual has two different kinds of VHL-associated tumors in two different parts of the body, or one kind of tumor and a first-degree relative with a diagnosis of VHL.

DNA diagnosis may also be performed, even before any symptoms may have occurred. This “early warning system” can be used to good advantage to get the person into a screening program that will help to identify any issues early so that a thoughtful plan for treatment can be developed, tailored to the needs of this individual. The goal of such a plan should be to maximize the person’s health, maintain good organ function, and avoid metastatic cancer.

For information on DNA testing, see http://vhl.org/dna

Diagnostic Tests

Tests vary depending on the part of the body being tested.

For a complete screening protocol, and discussions of the body parts to be studied, see http://vhl.org/handbook, especially the Screening Protocol.

We don't have any tests yet.

Disorder Treatments

A list of Common Treatment Recommendations is included in the VHL Handbook. See http://vhl.org/handbook

We don't have any treatments yet.

Prognosis

People with VHL who adhere to the screening guidelines have a better chance today for a normal life than ever before. People today can live a pretty normal lifespan, but there will

In the 16 years that the VHL Family Alliance has been together, we have learned many important things, which can be capsulized like this:

(1) Take good care of your body. Healthy eating, moderate exercise, plenty of sleep, all are important for keeping your own body’s defenses working at peak efficiency. What you read in the press about “nutrition for cancer prevention” can be assumed to apply.

(2) Manage stress. Take good care of your spirit, and learn how to ease yourself in times of stress. Exercise, prayer, meditation … whatever works for you.

(3) Sign up for Health Insurance. In most countries there is a base of health care available to all. In the United States, private insurance is essential to get a sufficient base of care to manage VHL. If you are considering DNA testing, make sure you have both health insurance and life insurance before you get tested.

(4) Know your risks. If you know that you are from a VHL family, get tested through DNA testing to find out if you are at risk for the tumors of VHL. If you have the VHL gene alteration, then follow the screening protocol. If you do not have the VHL genetic alteration yourself, you cannot pass it to a child.

(5) Educate Yourself. The “VHL Handbook: What You Need to Know About VHL” is essential to understanding how VHL behaves, and how to protect yourself. Read this booklet through, and keep it handy, not only for yourself but also to share with your physicians and educate them about this rare disorder.

(6) Screening Protocol. Follow the screening protocol as laid out by the VHL Family Alliance and their panel of experts. This will help you identify problems early, so that you have time to assemble a good team of doctors and put together a sensible plan that will maintain your organ health and keep your organs working for you throughout your lifetime, while avoiding metastatic cancer.

(7) Second (or third) Opinions. If there is time before any surgery or other procedure, it is wise to obtain a second (or even a third) opinion from one of the VHL experts who have seen more cases of VHL than your local doctor. This is especially true in the kidney and pancreas and in the female reproductive tract. VHL looks like some much more threatening diseases in those areas, and we have learned how to stay healthier longer with VHL-specific strategies.

(8) Be a Powerful Patient! The strategies we have learned for dealing with VHL are good for lots of conditions. We share them with a broader audience at http://powerfulpatient.org. Learn to take charge of your health and manage your health care team.

(9) Talk with Others — here, or at http://vhl.inspire.com, or on the phone or in a face-to-face support group. Sharing your fears reduces them in half. Be optimistic, and remember to LIVE!

Tips for Living with the Disorder

We don't have any tips yet.