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Von Hippel-Lindau Disease

What is Von Hippel-Lindau Disease?

Von Hippel-Lindau disease is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.


Von Hippel-Lindau disease is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.
Acknowledgement of Von Hippel-Lindau Disease has not been added yet.
Synonyms for Von Hippel-Lindau Disease has not been added yet.
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.
Symptoms vary depending which tumor occurs first. For a complete discussion, see
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
Diagnostic tests of Von Hippel-Lindau Disease has not been added yet
A list of Common Treatment Recommendations is included in the VHL Handbook. See
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 Learn to take charge of your health and manage your health care team. (9) Talk with Others -- here, or at, 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 or Suggestions of Von Hippel-Lindau Disease has not been added yet.
References of Von Hippel-Lindau Disease has not been added yet.
Talking about VHL Created by vhlfa
Last updated 19 May 2009, 06:29 PM

Posted by vhlfa
19 May 2009, 06:29 PM

There is already an existing support community for people with VHL at We invite you to join the conversation there, where there are years of previous conversations, and nearly a thousand people to welcome you. At you will find 16 years of compiled information on VHL. We publish the latest findings in our newsletter (3-4 times a year), with updates between paper issues in our e-news electronic newsletter. Please JOIN - become a member, help to support our existing projects, and fund research as well. You are always welcome to phone us at 1-800-767-4VHL (800-767-4845) which is a toll-free hotline available from US, Canada, and Mexico. Write to us at VHL Family Alliance 2001 Beacon Street, Suite 208 Boston, MA 02135

Community News Articles

Von-Hippel Lindau Syndrome Patients or Caregivers Wanted for Paid Project

Publication date: 17 Jun 2020

Community: Von Hippel-Lindau Disease


Von-Hippel Lindau Syndrome Patients or Caregivers Wanted for Paid Project

RareShare has been contacted by a market research group offering a paid opportunity for Von Hippel-Lindau patients and caregivers in Germany, France or the UK to share their experiences through an online digital journal or a web-cam based interview. 

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

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Joyce Graff is the Director of the VHL Family Alliance, an alliance of families affected by VHL, their physicians, researchers, and friends.



Her husband, Frank Graff, was diagnosed at...
Myrovlytis Trust
found out about my rare disease at the age of 23 after having my baby daughter. i am now 36 and have had a few surgeries to remove my hemangioblastomas. I lost vision in my right eye due to tumour...

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Talking about VHL

Created by vhlfa | Last updated 19 May 2009, 06:29 PM


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