Showing posts with label VHL. Show all posts
Showing posts with label VHL. Show all posts
Monday, September 20, 2010
Sunday, August 22, 2010
VHL Family Alliance
VHL Family Alliance
2001 Beacon St, Suite 208
Boston, MA 02135-7787 USA
Tel: +1 800 767-4845
http://www.vhl.org/
ABOUT THE VHL FAMILY ALLIANCE
The VHL Family Alliance provides information for families and physicians about this disorder, and local self-help support groups for families affected with VHL. Local family support chapters exist in regions of the U.S. Local chapter meetings are scheduled periodically. International VHL Support Organizations are established on six continents.
We are strong because of our many volunteers, mostly families living with VHL, health professionals, and friends. We are in touch with more than 14,500 affected people in 102 countries, with highest growth currently in Spanish-speaking countries.
Through the generosity of our members and friends, and a number of special grants, we have been able to provide a number of key services in North America, Germany and France, and to a lesser degree in a number of other countries. We do not receive any state or federal funding. No one source can do the entire job. It takes each person, giving what they can, contributing ideas and effort as well as funding, to make it all happen.
Volunteers answer the telephone hotline in three languages in North America, and in local languages in a number of other countries. Meet the North American hotline team.
Our Online services have grown beyond just the website. They include online discussion groups in seven languages, moderated by a group of volunteers who make sure that people get correct information and timely responses. We are grateful to eDoxs for spam and virus protection for all our online volunteers, and to Dr.Backup for protection of our office documents.
Our Handbook, completely updated in 2005, was first published 1993, revised 1997 and 1999.
Clinical Care Centers cooperate with institutions in 9 countries.
The VHL Tissue Bank, in cooperation with NDRI (ndriresource.org). Tissue banks also exist with Dr. Richard in Paris, France, and with Dr. Maher in Birmingham, England.
There are chapters in the geographic regions of the United States, and in twelve other countries. There are contact people in additional areas where there is not yet any formal organization. Refer to the list of U.S. Chapters & International Affiliates, or call or write to a contact person near you.
We have a Speakers' Bureau, and are frequently represented at regional, national, and international meetings on genetics, rare disease, ethics and research, and various medical topics.
We sponsor regional Patient/Provider Conferences, where the families share their experiences, and a biennial Medical Symposium where the health care professionals and researchers share their expertise, and we all learn. The 2010 Symposium will be held in Rio de Janeiro, October 23-24, 2010
Your memberships and Donations are always gratefully received.
Donations for Research and Education
Available Publications, Books, and Shirts
Because we work hard to keep our overhead expenses low, we are able to apply nearly all of your money directly to services and research grants. Our Annual Reports are available:
Annual reports and IRS 990's for 2009 and prior years
Most importantly, we — everyone in the VHL Family Alliance — are active members in a symbiotic partnership among families, friends, health professionals and researchers and are making progress in understanding how VHL works, and what tactics might be helpful in moderating the course of the disease. It's only a start, but it's a great deal more than we've ever had before. With your help, we will advance farther in the next year.
We are delighted to welcome you to the VHLFA Web Service, and hope that you will find whatever you need here. If not, please send us questions to info@vhl.org
— VHL Family Alliance Board of Directors and Medical Advisory Board.
2001 Beacon St, Suite 208
Boston, MA 02135-7787 USA
Tel: +1 800 767-4845
http://www.vhl.org/
ABOUT THE VHL FAMILY ALLIANCE
The VHL Family Alliance provides information for families and physicians about this disorder, and local self-help support groups for families affected with VHL. Local family support chapters exist in regions of the U.S. Local chapter meetings are scheduled periodically. International VHL Support Organizations are established on six continents.
We are strong because of our many volunteers, mostly families living with VHL, health professionals, and friends. We are in touch with more than 14,500 affected people in 102 countries, with highest growth currently in Spanish-speaking countries.
Through the generosity of our members and friends, and a number of special grants, we have been able to provide a number of key services in North America, Germany and France, and to a lesser degree in a number of other countries. We do not receive any state or federal funding. No one source can do the entire job. It takes each person, giving what they can, contributing ideas and effort as well as funding, to make it all happen.
Volunteers answer the telephone hotline in three languages in North America, and in local languages in a number of other countries. Meet the North American hotline team.
Our Online services have grown beyond just the website. They include online discussion groups in seven languages, moderated by a group of volunteers who make sure that people get correct information and timely responses. We are grateful to eDoxs for spam and virus protection for all our online volunteers, and to Dr.Backup for protection of our office documents.
Our Handbook, completely updated in 2005, was first published 1993, revised 1997 and 1999.
Clinical Care Centers cooperate with institutions in 9 countries.
The VHL Tissue Bank, in cooperation with NDRI (ndriresource.org). Tissue banks also exist with Dr. Richard in Paris, France, and with Dr. Maher in Birmingham, England.
There are chapters in the geographic regions of the United States, and in twelve other countries. There are contact people in additional areas where there is not yet any formal organization. Refer to the list of U.S. Chapters & International Affiliates, or call or write to a contact person near you.
We have a Speakers' Bureau, and are frequently represented at regional, national, and international meetings on genetics, rare disease, ethics and research, and various medical topics.
We sponsor regional Patient/Provider Conferences, where the families share their experiences, and a biennial Medical Symposium where the health care professionals and researchers share their expertise, and we all learn. The 2010 Symposium will be held in Rio de Janeiro, October 23-24, 2010
Your memberships and Donations are always gratefully received.
Donations for Research and Education
Available Publications, Books, and Shirts
Because we work hard to keep our overhead expenses low, we are able to apply nearly all of your money directly to services and research grants. Our Annual Reports are available:
Annual reports and IRS 990's for 2009 and prior years
Most importantly, we — everyone in the VHL Family Alliance — are active members in a symbiotic partnership among families, friends, health professionals and researchers and are making progress in understanding how VHL works, and what tactics might be helpful in moderating the course of the disease. It's only a start, but it's a great deal more than we've ever had before. With your help, we will advance farther in the next year.
We are delighted to welcome you to the VHLFA Web Service, and hope that you will find whatever you need here. If not, please send us questions to info@vhl.org
— VHL Family Alliance Board of Directors and Medical Advisory Board.
Early Detection
Early Detection
Because VHL varies so widely, there is no consistent set of symptoms in each person. Each possible feature of the disease is detected in a different way.
If you have a family history of VHL, it is important to tell your doctor, or your child’s pediatrician, and begin screening early, before any symptoms occur. Most VHL lesions are much easier to treat when they are small. Confer with your doctor about the best time to begin screening, and the right schedule for return visits. We recommend to begin regular screening of children at risk by age 1-3 years, especially for eye examinations, and to inform the pediatrician of the family’s history of VHL.
Nearly all of us at one time or another have wondered if it is better not to know — perhaps if we just don’t go through the testing, we’ll be okay. And for some years, that may seem to be true. But some of the possible complications of VHL are sneaky — you may not even have symptoms until the problem has developed to a critical level. It’s a little like not taking care of your house or car — you may get away with it for awhile, and then it all catches up with you and it costs you a great deal all at once. There is clear, documented evidence that you will stay healthier longer if you use medical diagnostic techniques wisely and are watchful.
Detection of affected individuals by DNA analysis of a blood sample is now possible for nearly all VHL families. The accuracy of the testing, and its usefulness in more families, is increasing rapidly. DNA testing can be used to determine which members of the family need to be followed closely. It can also determine which members may be reassured that they do not carry the altered VHL gene. If they do not have the altered VHL gene, they will not need further testing, and they cannot pass the altered gene to their children.
If you are a known VHL gene carrier, or if genetic testing does not yet work for your family, you will need to continue regular medical evaluation. One normal screening examination does not necessarily mean there is no VHL present, since the first evidence of VHL may occur later in life. Occasionally a person may be so mildly affected that VHL may seem to skip a generation. VHL has been diagnosed for the first time in people as old as 80, often because their children or grandchildren developed VHL tumors.
Even when only one of the features of VHL is found, and even if there is no family history of VHL, a diagnosis of VHL should be considered and a full diagnostic evaluation of other areas of the body should be carried out. It is quite possible for someone to be the first in the family to have VHL. In some studies, twenty percent of the patients were the first in their family to have VHL.
Depending on the outcome of your screening, your doctor will tell you what particular signs need to be followed closely. In general, vision problems, vomiting, headaches, balance problems, progressive weakness in arms or legs, or persistent pain lasting more than 1-2 days and that stays in one place, should be checked by your doctor.
Once VHL has been diagnosed in any one part of the body, it is important to undergo screening for possible evidences of the disease in other parts of the body, and to return for additional screening on the schedule recommended by your medical team.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org
Because VHL varies so widely, there is no consistent set of symptoms in each person. Each possible feature of the disease is detected in a different way.
If you have a family history of VHL, it is important to tell your doctor, or your child’s pediatrician, and begin screening early, before any symptoms occur. Most VHL lesions are much easier to treat when they are small. Confer with your doctor about the best time to begin screening, and the right schedule for return visits. We recommend to begin regular screening of children at risk by age 1-3 years, especially for eye examinations, and to inform the pediatrician of the family’s history of VHL.
Nearly all of us at one time or another have wondered if it is better not to know — perhaps if we just don’t go through the testing, we’ll be okay. And for some years, that may seem to be true. But some of the possible complications of VHL are sneaky — you may not even have symptoms until the problem has developed to a critical level. It’s a little like not taking care of your house or car — you may get away with it for awhile, and then it all catches up with you and it costs you a great deal all at once. There is clear, documented evidence that you will stay healthier longer if you use medical diagnostic techniques wisely and are watchful.
Detection of affected individuals by DNA analysis of a blood sample is now possible for nearly all VHL families. The accuracy of the testing, and its usefulness in more families, is increasing rapidly. DNA testing can be used to determine which members of the family need to be followed closely. It can also determine which members may be reassured that they do not carry the altered VHL gene. If they do not have the altered VHL gene, they will not need further testing, and they cannot pass the altered gene to their children.
If you are a known VHL gene carrier, or if genetic testing does not yet work for your family, you will need to continue regular medical evaluation. One normal screening examination does not necessarily mean there is no VHL present, since the first evidence of VHL may occur later in life. Occasionally a person may be so mildly affected that VHL may seem to skip a generation. VHL has been diagnosed for the first time in people as old as 80, often because their children or grandchildren developed VHL tumors.
Even when only one of the features of VHL is found, and even if there is no family history of VHL, a diagnosis of VHL should be considered and a full diagnostic evaluation of other areas of the body should be carried out. It is quite possible for someone to be the first in the family to have VHL. In some studies, twenty percent of the patients were the first in their family to have VHL.
Depending on the outcome of your screening, your doctor will tell you what particular signs need to be followed closely. In general, vision problems, vomiting, headaches, balance problems, progressive weakness in arms or legs, or persistent pain lasting more than 1-2 days and that stays in one place, should be checked by your doctor.
Once VHL has been diagnosed in any one part of the body, it is important to undergo screening for possible evidences of the disease in other parts of the body, and to return for additional screening on the schedule recommended by your medical team.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org
How do People get VHL?
How Do People get VHL?
Von Hippel-Lindau is caused by an alteration in one of your two copies of a gene referred to as the VHL gene. This altered gene may be transmitted genetically, following a dominant pattern of inheritance. Each child receives one gene of each pair from each parent. If one parent has an alteration (mutation) in a dominant gene, each child has a fifty-fifty chance of inheriting that gene. One copy of the altered gene is sufficient to produce the disease. VHL is sometimes referred to as an autosomal dominant trait, meaning that it is not limited to one sex, but may occur in both men and women.
Inheritance of a dominant gene. A child receives one gene in each pair from each parent. If one parent has a Dominant gene (D), each child has a fifty-fifty chance of inheriting the condition. Dominant genes dominate their normal counterparts (n). A dominant gene can be inherited by either a male or female child, from an affected mother or father. Illustration from the March of Dimes.
Anyone with a parent with VHL and most people with a brother, or sister with VHL are at 50 percent risk of having VHL. Anyone with an aunt, uncle, cousin, or grandparent with VHL may also be at risk. The only way to determine for sure that someone does not have the VHL gene is through DNA testing. Even in people who have an alteration in the VHL gene, however, there is a wide variation in the age at which angiomas and other VHL tumors begin to grow, the organ system in which they grow, and the severity of the involvement. Every person is different.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/
Von Hippel-Lindau is caused by an alteration in one of your two copies of a gene referred to as the VHL gene. This altered gene may be transmitted genetically, following a dominant pattern of inheritance. Each child receives one gene of each pair from each parent. If one parent has an alteration (mutation) in a dominant gene, each child has a fifty-fifty chance of inheriting that gene. One copy of the altered gene is sufficient to produce the disease. VHL is sometimes referred to as an autosomal dominant trait, meaning that it is not limited to one sex, but may occur in both men and women.
Inheritance of a dominant gene. A child receives one gene in each pair from each parent. If one parent has a Dominant gene (D), each child has a fifty-fifty chance of inheriting the condition. Dominant genes dominate their normal counterparts (n). A dominant gene can be inherited by either a male or female child, from an affected mother or father. Illustration from the March of Dimes.
Anyone with a parent with VHL and most people with a brother, or sister with VHL are at 50 percent risk of having VHL. Anyone with an aunt, uncle, cousin, or grandparent with VHL may also be at risk. The only way to determine for sure that someone does not have the VHL gene is through DNA testing. Even in people who have an alteration in the VHL gene, however, there is a wide variation in the age at which angiomas and other VHL tumors begin to grow, the organ system in which they grow, and the severity of the involvement. Every person is different.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/
Angiomas, Hemangioblastomas, Cysts and Tumors
Angiomas may occur in several parts of the body. Angiomas in the brain or spinal cord, for example, are called hemangioblastomas. The pressure they exert may in itself cause symptoms. They may press on nerve or brain tissue and cause symptoms such as headaches, problems with balance when walking, or weakness of arms and legs.
If the angioma grows, the walls of the blood vessels may weaken and some blood leakage may occur, which can cause damage to surrounding tissues. Blood or fluid leakage from angiomas in the retina, for example, can interfere with vision. Early detection, careful monitoring of the eye, and treatment when needed, are very important to maintain healthy vision.
Cysts may grow up around angiomas. Cysts are fluid-filled sacs which may exert pressure or create blockages that can cause symptoms.
Some male patients experience tumors in the scrotal sacs. These tumors are almost always benign, but should be examined by your urologist. Similarly, women may have benign cysts and tumors among the reproductive organs, which need careful monitoring.
Cysts and tumors may occur in the kidney, pancreas, and adrenal glands. These cysts frequently cause no symptoms, but must be monitored for changes. One sign of adrenal gland tumors may be high blood pressure. Some of these tumors are benign, while others are cancerous. Early detection and careful monitoring are particularly important for these organ systems, usually with yearly CT or MRI, assisted by ultrasound scanning.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org
What is VHL?
Von Hippel-Lindau, abbreviated VHL, is one of more than 7000 known inherited disorders. Tumors will develop in one or more parts of the body. Many of these tumors involve the abnormal growth of blood vessels in different organs of the body.
While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord, or retina. These little knots are called angiomas, or hemangioblastomas. In other parts of the body the tumors of VHL are called by other names.
These tumors themselves may cause problems, or problems may develop around them. For this reason they need to be carefully monitored by your medical team.
VHL is different in every patient. Even in the same family, people may show only one or several features of VHL. Since it is impossible to predict exactly which one or more manifestations of VHL each person will have, it is important to continue to check for all the possibilities throughout a person’s lifetime.
Dr. Eugen von Hippel, a German ophthalmologist, described the angiomas in the eye in 1893-1911. His name was originally used only in association with VHL in the retina.
Dr. Arvid Lindau, a Swedish pathologist, first described the angiomas of the cerebellum and spine in 1926. His description included a systematic compilation of all other published patients, including those of von Hippel, and described changes in different abdominal organs. We now understand that both these physicians were describing different aspects of the same disease.
Von Hippel-Lindau (VHL) is different from most other conditions in that it has no single primary symptom, that it does not occur exclusively in one organ of the body, and that it does not always occur in a particular age group. Generally the condition is hereditary, but the health problems of the involved families and the specialties of the attending physicians are so varied that the common cause may not be recognized. In addition, the appearance and severity of the condition are so variable that many members of the family may have only some relatively harmless issue, while others may have a serious illness.
With careful monitoring, early detection, and appropriate treatment, the most harmful consequences of this gene can be greatly reduced, or in some cases even prevented entirely.
Researchers are also finding that a significant number of new cases are occurring. As many as 20 percent of the families seen at centers around the world are the first in their family ever to have VHL. We do not yet understand why this is happening, but it underscores the importance of the need for careful differential diagnosis in all people, not just those in families known to be at risk for VHL.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org
While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord, or retina. These little knots are called angiomas, or hemangioblastomas. In other parts of the body the tumors of VHL are called by other names.
These tumors themselves may cause problems, or problems may develop around them. For this reason they need to be carefully monitored by your medical team.
VHL is different in every patient. Even in the same family, people may show only one or several features of VHL. Since it is impossible to predict exactly which one or more manifestations of VHL each person will have, it is important to continue to check for all the possibilities throughout a person’s lifetime.
Dr. Eugen von Hippel, a German ophthalmologist, described the angiomas in the eye in 1893-1911. His name was originally used only in association with VHL in the retina.
Dr. Arvid Lindau, a Swedish pathologist, first described the angiomas of the cerebellum and spine in 1926. His description included a systematic compilation of all other published patients, including those of von Hippel, and described changes in different abdominal organs. We now understand that both these physicians were describing different aspects of the same disease.
Von Hippel-Lindau (VHL) is different from most other conditions in that it has no single primary symptom, that it does not occur exclusively in one organ of the body, and that it does not always occur in a particular age group. Generally the condition is hereditary, but the health problems of the involved families and the specialties of the attending physicians are so varied that the common cause may not be recognized. In addition, the appearance and severity of the condition are so variable that many members of the family may have only some relatively harmless issue, while others may have a serious illness.
With careful monitoring, early detection, and appropriate treatment, the most harmful consequences of this gene can be greatly reduced, or in some cases even prevented entirely.
Researchers are also finding that a significant number of new cases are occurring. As many as 20 percent of the families seen at centers around the world are the first in their family ever to have VHL. We do not yet understand why this is happening, but it underscores the importance of the need for careful differential diagnosis in all people, not just those in families known to be at risk for VHL.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. www.VHL.org
Cancer and VHL
VHL patients are predisposed to certain kinds of cancer. The most feared is Renal Cell Carcinoma. Kidney Cancer.
Once you have symptoms...it's too late. Early detection is critical. You may develope cysts and/or tumors...it's important to check regularly.
My Uncle Bill had RCC (Renal Cell Carcinoma). He passed away in 1981.
What is Cancer?
Cancer can be a frightening word. Families need to know that cancer canoccur with VHL. However, with careful early monitoring and treatment, the worst possibilities of cancer may never occur.
Cancer is not one thing, it is a group of more than 100 different diseases. While each disease differs from the others in many ways, every cancer is a disease of some of the body’s cells. Cancer associated with VHL is limited to specific types.
Healthy cells that make up the body’s tissues grow, divide, and replace themselves in an orderly way. This process keeps the body in good repair. Sometimes, however, normal cells lose their ability to limit and direct their growth. They divide too rapidly and grow without any order. Too much tissue is produced, and tumors begin to form. Tumors can be benign or malignant.
• Benign tumors, such as VHL tumors of the brain, spine, and retina, are not cancerous and do not spread.
• Malignant tumors, like those which may occur in the kidney, are cancerous. They can invade and destroy nearby healthy tissues and organs. Cancer cells also can spread, or metastasize, to other parts of the body and form new tumors.
Because VHL can cause malignant tumors in the visceral organ systems, it is considered one of a group of familial cancer risk factors, which are transmitted genetically. The objective is to find tumors early, watch for signs that a tumor is becoming aggressive in its behavior, and to remove the tumor before it invades other tissues. Since these tumors are inside the body, you need medical imaging techniques to find and watch them.
Not all tumors require surgery when they are found. Research is going on to learn more about how to tell when a tumor is getting worrisome and requires action. You and your family can help researchers learn more about how long we can safely watch tumors by sharing your family’s own experiences. Please contact the VHL Family Alliance for more information on researching your family tree.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/
Once you have symptoms...it's too late. Early detection is critical. You may develope cysts and/or tumors...it's important to check regularly.
My Uncle Bill had RCC (Renal Cell Carcinoma). He passed away in 1981.
What is Cancer?
Cancer can be a frightening word. Families need to know that cancer canoccur with VHL. However, with careful early monitoring and treatment, the worst possibilities of cancer may never occur.
Cancer is not one thing, it is a group of more than 100 different diseases. While each disease differs from the others in many ways, every cancer is a disease of some of the body’s cells. Cancer associated with VHL is limited to specific types.
Healthy cells that make up the body’s tissues grow, divide, and replace themselves in an orderly way. This process keeps the body in good repair. Sometimes, however, normal cells lose their ability to limit and direct their growth. They divide too rapidly and grow without any order. Too much tissue is produced, and tumors begin to form. Tumors can be benign or malignant.
• Benign tumors, such as VHL tumors of the brain, spine, and retina, are not cancerous and do not spread.
• Malignant tumors, like those which may occur in the kidney, are cancerous. They can invade and destroy nearby healthy tissues and organs. Cancer cells also can spread, or metastasize, to other parts of the body and form new tumors.
Because VHL can cause malignant tumors in the visceral organ systems, it is considered one of a group of familial cancer risk factors, which are transmitted genetically. The objective is to find tumors early, watch for signs that a tumor is becoming aggressive in its behavior, and to remove the tumor before it invades other tissues. Since these tumors are inside the body, you need medical imaging techniques to find and watch them.
Not all tumors require surgery when they are found. Research is going on to learn more about how to tell when a tumor is getting worrisome and requires action. You and your family can help researchers learn more about how long we can safely watch tumors by sharing your family’s own experiences. Please contact the VHL Family Alliance for more information on researching your family tree.
I am not a doctor or an expert by any means. Please visit VHL Family Alliance website for more information. http://www.vhl.org/
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