Chances are that if you are reading this page, you or someone you know has been impacted by HLRCC. We are very glad that you are here; to gather information, learn about this condition, and most importantly, to take control of your own, your patient's, or your loved one's health.
If you want a quick overview of HLRCC, there is a 2 page hand-out called "QUICK FACTS," to print and keep handy.
The term HLRCC did not exist a few years ago. Other older terms for this condition are Reed’s syndrome or MCUL. Then ten years ago the connection to the possibility of developing kidney cancer and the role of the FH gene was found giving rise to the new term. Communicating to the outside world about this condition has been slow and arduous, although we are making progress. So far, up to 1000 individuals have been involved in studies regarding this condition, but most likely thousands more individuals are going undiagnosed. In our attempt to protect ourselves and our family members, those of us diagnosed with HLRCC have learned the value of annual screening. If people with HLRCC are going to stay healthy, they have to understand the risks and take action to protect themselves. These facts, along with the knowledge that most doctors do not even know that this condition exists, prompted us to create this handbook.The purpose of the HLRCC Family Alliance Handbook is:
- To teach patients how to take control of their own health once they are diagnosed
- To provide medical professionals with a convenient summary of the latest information available on HLRCC, and how best to manage the health of a patient with HLRCC.
- To communicate the importance of both screening for kidney tumors and conducting genetic testing for blood-related family members
- To offer doctors and patients resources for clinical research, tips for efficient and safe screening, and the most up-to-date information possible regarding current research and statistics for HLRCC
Finally, it is our hope that the HLRCC Family Alliance through its web site, Facebook Group, and this handbook will provide you with emotional support. An additional online resource is Inspire where those impacted by HLRCC, VHL, and BHD can exchange information, stories and encouraging words. We encourage you to join and partake. They are wonderful resources!Thank you for your support and for doing all you can to spread the word about HLRCC. Remember, KNOWLEDGE SAVES.
Julie Haff Rejman, Chair
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance
c/o VHL Alliance
1208 VFW Parkway // Suite 303
Boston, MA 02132 USA
Tel: +1 800 767-4845 ext. 709 (toll-free) or +1 617 277-5667 ext. 709
Fax: +1 866-209-0288 (toll-free) or +1 858-712-8712
The HLRCC Family Alliance is indebted to the VHL Alliance for their generous financial and administrative support. Although the HLRCC syndrome is not linked to von Hippel-Lindau (VHL), or Birt-Hogg-Dubé (BHD) they are all related on the path to kidney cancer, and the three syndromes have a number of common characteristics.See http://www.vhl.org/ and http://www.bhdsyndrome.org/
The HLRCC Family Alliance
At the urging of Lindsay Middelton, Genetic Counselor at the US-NCI, and with the support of Joyce Graff of the VHL Family Alliance, Phil Thayer founded the HLRCCFA in the autumn of 2004 and continued as leader of the group until early 2011.
In February 2011, Julie Haff Rejman became the Chair of the organization. Graham Lovitt became the Vice Chair.
In January 2013, Antony Horton Ph.D., also became a Vice Chair.
The HLRCC Family Alliance Leadership
Chair: Julie Haff Rejman, Colorado, USA
Vice Chair: Antony Horton Ph.D., New York, USA
Vice Chair: Graham Lovitt, UK
Powerful Patient: Joyce Graff, M.A., Massachusetts, USA
VHLA Director of Wellness: Suzanne Nylander,O.D., B.S., Massachusetts, USA
VHLA Executive Director: Ilene Sussman Ph.D., Massachusetts, USA
- HANDBOOK CO-AUTHORS:
Joyce Graff, Graham Lovitt, Julie Haff Rejman, and Alison Smith
- HANDBOOK CONTRIBUTORS AND REVIEWERS:
Julie Adam, Ph.D., Lindsay Middelton, Pamela Stratton, M.D., and Ian Tomlinson, Ph.D.
- WEBSITE SUPPORT and DESIGN:
Website designer: Angela Render Original logo design: Dr. Daniel Rejman DDS, MS
Digital logo graphic: Ingrid Morris
Medical information on this site is reviewed by our Medical, Research and Support Council.
Information provided on the website is designed to support, not replace, the relationship that exists between a patient or site visitor and his or her physician.
The website does not accept advertising. It is supported solely by donations from people with HLRCC, their friends, their families and supporters, and physicians and researchers interested in HLRCC.
Personal details that you provide to the HLRCC Family Alliance, including e-mail addresses, are kept entirely confidential. These details are shared within this organization among staff and volunteers for the purpose of providing service to you, but are never shared with, rented or sold to other organizations. All staff and volunteers have made confidentiality agreements to protect your information. To verify your information or send corrections, please contact us at email@example.com
Information you submit to us voluntarily through the website is stored on our secure server using SSL encryption technology.
Computer Tracking and Cookies
The website is not set up to track, collect or distribute personal information not entered by visitors. Our site logs do generate certain kinds of non-identifying site usage data, such as the number of hits and visits to our sites. This information is used for internal purposes by technical support staff to provide better services to the public and may also be provided to others, but again, the statistics contain no personal information and cannot be used to gather such information.
The website also recognizes the online site where a visitor searched to find a subject which brought them to the HLRCCFA website, but we cannot identify the visitor or the visitor’s address. Site information is used to help us serve these search sites with the correct information about our material. No personal information is collected.
Links to Third Party Sites
The links included within the service may let you leave this site. The linked sites are not under the control of HLRCC Family Alliance and HLRCCFA is not responsible for the contents of any linked site, or any link contained in a linked site, or any changes or updates to such sites. These links are provided as a convenience only, and the inclusion of any link does not imply endorsement by HLRCCFA of the site or any association with their operators.
If you have technical questions about this site, please contact: firstname.lastname@example.org.
Medical, Research and Support Council
Julie Adam, Ph.D., Researcher, Nuffield Department of Medicine, Oxford, UK
Kristiina Aittomäki, M.D., Ph.D., Professor, Head of the Department of Clinical Genetics, HUSLAB ,Helsinki University Hospital, Finland
Andrea Berkemeier, MA, BSE, Director of Engagement and Outreach, VHL Alliance, USA
Gennady Bratslavsky, M.D., Chair of Urology, Upstate Medical Center, Syracuse, NY, USA
Patrick R. Carrington, M.D., Dermatologist and Associate Editor of the Journal of the American Academy of Dermatology, Greenwood Village, CO, USA
Carlos Alberto Fredes, Executive Director of the Argentina Association of Families of Von Hippel-Lindau (VHL-AAF) Argentina
Eyal Gottlieb, BSc., MSc., Ph.D., Research Group Leader, Beatson Institute of Cancer Research, Glasgow, Scotland, UK
Joyce Graff, M.A., Powerful Patient, Inc., Massachusetts, USA
Antony Horton, Ph.D.,Vice Chair HLRCC Family Alliance, previously Chief Scientific Officer at the International Rett Syndrome Foundation, founder and C.E.O. of his own small company PharCited, which provides strategic advice to the biomedical non-profit sector, New York, USA
Bruce H. Lee, Director, Chairman, Treasurer & Secretary of Driven to Cure
W. Marston Linehan, M.D., Chief, Urologic Oncology Branch, National Cancer Institute*, USA
Graham Lovitt, Vice Chair HLRCC Family Alliance, retired software quality assurance manager, software systems designer, Torquay, Devon, UK
Eamonn R Maher M.D., FRCP, FMedSci, Professor of Medical Genetics and Genomic Medicine, University of Cambridge, UK
Fred H. Menko, M.D., Ph.D., Consultant Clinical Geneticist, VU University, Amsterdam, The Netherlands
James W. Mier, M.D., Associate Professor, Department of Medicine, Harvard Medical School, USA
Julie H. Rejman, MSW, Chair of HLRCC Family Alliance, Castle Rock, CO, USA
Stéphane Richard, M.D., Ph.D., Professor of Oncogenetics and Chair, National Expert Centre for Rare Cancers PREDIR, Le Kremlin-Bicêtre, France
Laura S. Schmidt, Ph.D., Urologic Oncology Branch, National Cancer Institute*, USA
Pamela Stratton, M.D., Gynecologist, National Institute of Child Health and Human Development, US-NIH,Bethesda, MD, USA
Sunil Sudarshan, M.D., Assistant Professor UTHSCSA, Urology, San Antonio, TX, USA
Ilene Sussman, Ph.D., Executive Director VHL Alliance, Massachusetts, USA
Min-Han Tan, MBBS FRCP FAMS PhD, CEO and Medical Director of Lucence Diagnostics Pte Ltd.
Ian Tomlinson, BA MA Ph.D. Camb, BM Brist, BM BCh Oxf, Professor of Molecular and Population Genetics, Nuffield Department of Medicine Oxford, UK
Jorge R. Toro, M.D., Investigator, Dermatology Branch, National Cancer Institute*, USA
Ingrid Winship, MB ChB, MD, FRACP, FACD., Professor of Adult Clinical Genetics, University of Melbourne and Royal Melbourne Hospital, Melbourne, Australia
*The National Cancer Institute (US-NCI) is one of the National Institutes of Health (US-NIH), Bethesda, MD, USA
Although no longer actively involved, in recognition of their contribution to the world of HLRCC the following have kindly agreed to be listed.
Virpi Launonen, Finland, Author of the paper establishing the connection between symptoms of HLRCC and the gene on chromosome 1 (2001)
Phil Thayer, USA, Founder of HLRCC Family Alliance in 2004
Supporting the HLRCC Family Alliance c/o VHLA
The HLRCC Family Alliance was founded in 2004 as a support group for people affected by Hereditary Leiomyomatosis and Renal Cell Cancer and interested health care professionals, and to promote research. Funding the Alliance helps support our website and any outreach we do to the medical community, including such things as domestic and international mailings, attending medical conferences related to HLRCC, or supporting travel expenses for HLRCC educators. The Alliance is funded by the generosity of its supporters. The HLRCC Family Alliance is currently not a separate legal entity and is kindly supported by VHL Alliance infrastructure.
* The VHL Alliance is registered as a non-profit charity with the tax authorities in the United States, Canada, and Great Britain, as well as other countries. Please contact your local group and your tax advisor for specific information on guidelines for tax deductibility of donations.
Please mail the following Supporter/Donation form to HLRCC Family Alliance c/o VHL Alliance, 1208 VFW Parkway // Suite 303, Boston, MA 02132 USA. Thank you!
- HLRCC stands for Hereditary Leiomyomatosis and Renal Cell Cancer (sometimes Carcinoma). It is also known as Reed’s Syndrome.
- HLRCC is caused by an inherited genetic alteration in the Fumarate Hydratase (FH) gene. There is a 50% risk of passing this on and the severity of the disease can vary a lot from person to person. It can be diagnosed by the detection of this genetic alteration (mutation).
- Many women with HLRCC develop large uterine fibroids in their twenties. Although benign, the fibroids may result in early treatment.
- Both men and women tend to develop benign skin leiomyomas (or “skin bumps”) in their twenties. These two symptoms together, fibroids and skin leiomyomas, offer an important clue to the need for genetic testing of the FH gene. Because of the absence of uterine fibroids, HLRCC is more likely to go undetected in men, and early diagnosis is less likely.
- Screening requires an annual MRI scan of the abdomen using pre-and post- contrast 3D acquisition with 3mm slice reconstruction for the detection of kidney cancer. Be sure to read the Handbook section “Suggested Screening Guidelines” for more information.
- Even small HLRCC kidney tumors can metastasize, or spread, very quickly to the bones, lungs and brain. Unlike some other cancers, there is no curative treatment for kidney cancer once it metastasizes, although life may be extended with the latest class of drugs. Annual screening helps our goal to prevent metastasis and to stay healthy.
- If you live in the United States, you may want to consider being part of a clinical trial at the National Institutes of Health (US-NIH) in Bethesda, MD. This is the only trial open at the time of writing. We expect that more will be opened in the future, possibly at other locations around the world.
- It is recommended that children who have a parent with HLRCC have genetic testing by age 8 as screening is recommended from that age for children at risk. Please read more about this in the Handbook..
- It is a newly identified condition (2002) and is currently being studied at several locations around the world.
- There are approximately 200-300 families currently diagnosed with HLRCC with perhaps 1500 patients. It is an under-diagnosed condition because of its rarity.
- Being diagnosed with HLRCC can be a very scary thing, mostly because it has the word cancer in its heading. If you have HLRCC it does not mean that you have kidney cancer or will necessarily get it. However it does mean that you have an increased risk factor for kidney cancer, and you need to screen yourself so that doctors can detect even the smallest HLRCC cancer in your kidneys.
- Our motto is Knowledge Saves. Although it is sometimes difficult to come to terms with a new diagnosis, we provide you and your family with information to protect yourselves and future generations. Knowledge truly is a gift.
- We encourage you to look through our website and the handbook. We also encourage you to reach out to us and ask for support – or offer it to another member. We are a small group, but we are very active, even on Facebook! We hope you will join us!
- Rare Connect HLRCC Community
- HLRCC Family Alliance Facebook Secret Group
- HLRCC Family Alliance Facebook Page
- The HLRCC Family Alliance 1-800-767-4845 extension 709
- HLRCC Family Alliance c/o VHL Alliance, 1208 VFW Parkway // Suite 303, Boston, MA 02132 USA.