YOUR EMOTIONAL HEALTH
HLRCC can be an overwhelming diagnosis because of the word cancer. Although most HLRCC patients never get kidney cancer, dealing with the potential of developing it can be difficult. Others on this site may have learned of their HLRCC diagnosis AFTER developing kidney cancer and are currently undergoing medical treatment. No matter what stage you are experiencing, it is important to find emotional support to get you through this difficult time.
Some normal feelings after a diagnosis:
- Shock and Denial
- Fear and Worry
- Acceptance and Coping
It can take one to two years after a diagnosis for life to return back to normal… and "normal" still means annual screening and always knowing that kidney cancer is a possibility. Having our children and family members tested can add to the stress of this diagnosis as well.
Being able to cope emotionally is essential for staying healthy and fighting cancer. Stress is very powerful and too much stress can hurt the body’s immune system. There are many things that you can do to help combat stress:
- Find time to exercise.
- Eat well and avoid tobacco, limit alcohol to 1-2 glasses per day and limit caffeine excesses.
- Get a good amount of sleep.
- Surround yourself with positive people and family members/friends who will offer you emotional support
- Find a support group to talk with about your feelings and fears.
- Attend individual, couple or family counseling.
- Become educated about HLRCC so you feel in control of your diagnosis. Purchase or download our handbook for detailed information.
- Find time to recharge your batteries. Depending on the type of person you are either "Find quiet and alone time to clear your head" or "Find time to be with other people".
- Manage your stress, so that you feel more in control of your life. Use meditation, prayer, sports, walking, classical music, a bubble bath... to add something into your life that soothes you and helps you manage your stress level.
- Stay positive
The HLRCC Family Alliance is a wonderful support group of people and they can be found via the website hlrccinfo.org, in our HLRCC Community on Smart Patients on Inspire, and on Rare Connect as well. We also have an active Secret Facebook Group. If you need a place to ask questions, find emotional support and talk about your own fears and feelings, please join us. See next section "PATIENT and MEDICAL SUPPORT"
PATIENT and MEDICAL SUPPORT
HLRCC Family Alliance Website
This is the home page for the HLRCC Family Alliance web site and provides the central contact point
Public launch April 2013 - This is a new, free state-of-the art website. Smart Patients has many online communities serving medical conditions for patients and caregivers. The site includes a clinical trial search engine that presents trial data from ClinicalTrials.gov in a patient-friendly format as well as a general search engine for all the site.
It replaces the patient-to-patient message board support KIDNEY-ONC and PAPILLARY-RCC from the Association of Cancer Online Resources (ACOR).
Facebook Secret Group
It is important that you understand that membership of this Facebook Group is controlled by administrators in order to protect your privacy. "Secret" means that all posts within the group can only be seen by group members, and names of all of its members are not externally visible. There is no visibility to search engines and nothing on your Facebook Timeline.
Unless you are an existing family member, admittance requires you to submit relevant strictly confidential information about your reasons for wishing to join the group.
This can be done by emailing email@example.com from the email account that is connected to your Facebook account.
If your request is acceptable you will receive an email from Facebook with a Facebook link inviting you to join the group. Using this link will enable your admission to the group to be finalized.
We strongly advise you to join and make friends. Members are finding this is a very easy way to communicate with each other. However it has inferior history search facilities compared to Smart Patients.
RareConnect HLRCC Community
This is a new support community for HLRCC in the organization RareConnect a partnership of Eurordis and NORD “Connecting Rare Disease Patients Globally”. It is an alternative to INSPIRE, but has the advantage of providing language translation facilities. You can look in on RareConnect and then decide if you would like to join by creating your own user name and password.
The VHL Family Alliance Group in INSPIRE supports HLRCC and BHD as discussion topics. It provides private patient to patient message board support. It allows patients to talk with each other about their questions and concerns, while providing emotional support to one another. You can also write your own journal entries or start or add to discussion threads. There is privacy control. We strongly advise you to join and make friends.
You can look in on INSPIRE and then decide if you would like join by creating your own user name and password. New topics are posted every day (there are many other topics discussed other than the specific medical issues of HLRCC) and it's a very easy way to connect with others who are impacted by HLRCC and related hereditary kidney cancer syndromes.
VHL UK/Ireland Charity
VHL UK/Ireland Home Page This is a charity for UK/Ireland created to support families and carers for the allied genetic conditions of VHL, BHD and HLRCC and to raise money for research. The website gives contact information by telephone and into the closed Facebook group.
UK KIDNEY CANCER SUPPORT NETWORK
Kidney Cancer Forums
These provide forums and message boards for Kidney Cancer.
This is a free web site for information about 700,000 practicing physicians in the United States.
Free web site for finding US Practitioners for named conditions. Search can be refined by area. Although HLRCC is not currently recognized, VHL is and many physicians cover both conditions. If you have searched by area, scroll down to the displayed information. Do not click on to any links as they will expand to the whole of the US. For example http://search.apexmd.com/search2.aspx?q=vhl&r=5 will show 9 urology physicians in Texas. Clicking on to the urology link will show all 1000 US physicians
Has free patient websites to help family and friends share information and support. This is particularly helpful for people who are currently in the hospital or undergoing longer treatments.
The portal for rare diseases and orphan drugs in Europe
Various Addiction Resources
AddictionResource.com is a volunteer-run organization that focuses on providing accurate, reliable, and up-to-date information regarding substance addiction. There is also a specific website AlcoRehab for alcohol addiction, treatment and recovery.
Quit Smoking Community is a volunteer-run organization that helps people wanting to stop smoking. Also on Facebook Page and Facebook Group.
Addiction Treatment Programs, Nationwide Rehab Centers That Fit Your Needs http://www.rehabcenter.net/ Find your nearest rehab center.
You may be tempted to start Vaping as an alternative. Please read this article first Vaping 101 – Health Relation, Benefits, Dangers, Fun Facts, And More
A US government website where you will find information and tools to help you and those you care about stay healthy.
RxDangers.com aims to be your trusted resource, educating the US public about all defective medical devices and dangerous medications that are available on the market today.
Recall Report was created to alert the public to the latest information on dangerous drugs and products.
Cerebral Palsy Guidance and Cerebral Palsy Group
These sites may be of interest to our Fumarase Deficiency families as it has a lot of good information on developmental and intellectual disabilities, as well as information about emotional effects, counseling and more.
The list of clinical trials and studies is constantly changing and people are advised to seek out the latest information from your medical specialists or by contacting firstname.lastname@example.org. The following was current at the time of writing this document.
The Natural History Study at the National Institutes of Health
The US-NIH, currently has a Natural History study for individuals who have been diagnosed with HLRCC or who have the clinical symptoms that might imply a possible diagnosis.
If you have an interest in the US-NIH Study, contact:
Debbie Nielsen, BSN
Urologic Oncology Branch
National Cancer Institute
National Institutes of Health
Bldg. 10, CRC, Rm. 2W-5740
9000 Rockville Pike
Bethesda MD 20892
T: (301) 451-4093
F: (301) 435-9262
Patient Care Coordinator
T: (301) 402-6507
"Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome"
- This study is currently recruiting participants as of February 2013. The study is now seeing new people with HLRCC who have a kidney cyst or a solid tumor and also one new first person from a new family with HLRCC. Other people at risk in HLRCC families should be screened by their local medical centers. The Trial Number was NCT00055627(now obsolete).
Phase II Study of Bevacizumab and Erlotinib
"A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer"
This clinical trial of bevacizumab (AVASTINÂ® | Genentech, Inc.) and erlotinib (TarcevaÂ® is ongoing, and is again (May 7, 2015) recruiting patients with papillary kidney cancer that has spread (metastasized) beyond the kidneys. Very good interim results have been reported in http://medicalxpress.com/news/2014-11-kidney-cancer-patients-combination-anti-cancer.html Kidney cancer patients respond well to a combination of two existing anti-cancer drugs
In Annual Meeting News W. Marston Linehan, M.D is reported as saying:
"As for HLRCC syndrome, NCI began focusing on this familial kidney cancer syndrome in the 1980s. Researchers learned that these patients develop a particularly aggressive form of type 2 papillary kidney cancer. In addition to raised and painful cutaneous leiomyomas, 90 percent of female patients in these HLRCC syndrome families also develop uterine fibroids."
"HLRCC is one of the most malignant types of kidney cancer there is," Dr. Linehan said. "It needs to be detected because it can spread early and can be lethal."
HLRCC syndrome is caused by an alteration of the Krebs cycle enzyme, fumarate hydratase. In studying this fumarate hydratase pathway in HLRCC, NCI researchers learned that when the fumarate hydratase gene in the cancer cell is damaged, it alters its metabolism significantly, becoming exceptionally dependent on glycolysis and glucose uptake.
"We have developed an approach to treatment that involves using bevacizumab and erlotinib, therapeutic agents that target the vulnerability of this fumarate hydratase pathway in HLRCC patients with advanced kidney cancer," Dr. Linehan said. "This is currently an ongoing clinical trial, and we are cautiously optimistic about the early results."
He also reported that blood tests are available to assist clinicians in making a diagnosis by detecting fumarate hydratase (FH) for HLRCC syndrome and folliculin (FLCN) for BHD syndrome.
"In both of these hereditary cancer syndromes, it is important for dermatologists and other clinicians to understand the significance of fibrofolliculomas and leiomyomas," Dr. Linehan said. "These patients need to be evaluated for the possible presence of kidney cancer when they present with these dermatologic findings." Listen to W. Marston Linehan, M.D (MP3)
Editor’s Note: Additional drugs will be forthcoming that will target the FH pathway. Stay tuned for more news.
Phase I/II Study of Vandetanib and Metformin
"Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma"
This Phase I/II clinical trial of vandetanib (CAPRELSA® | AstraZeneca United States ) and metformin is ongoing, and recruiting (July, 2015) patients with papillary kidney cancer that has spread (metastasized) beyond the kidneys.
Phase II Trial of the DNA Methyl Transferase Inhibitor Guadecitabine (SGI-110)
A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer
Wild-type gastrointestinal stromal tumor (GIST) is a cancer in the esophagus, stomach, or intestines. It does not respond well to standard chemotherapy or radiation therapy. Most people with GIST are treated with imatinib. But it may not work in many children with GIST. Researchers think the drug SGI-110 may help treat people with GIST, pheochromocytoma and paraganglioma (PHEO/PGL), or kidney cancer related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
Phase I Study of the Glutaminase Inhibitor CB-839 in Solid Tumors
This phase I trial using CB-839 is recruiting (December, 2015) patients with Fumarate Hydratase (FH)-deficient tumors.
Phase 2 Trial Olaparib with and without AZD1775, AZD5363, and AZD2014 in Treating Patients with Advanced Solid Tumors
Researchers at Yale have just opened a clinical trial that they believe specifically addresses the underlying biology of HLRCC. (They are actively looking for HLRCC patients at this time). Their description in lay language: Cancer patients with a family history of FH or SDH mutations, or tumors found to have these mutations. These mutations most typically appear in patients with hereditary kidney cancers including syndromes such as HLRCC. Genetic testing must have been completed that confirms the presence of this mutation. For patients with a history of HLRCC, the investigators at Yale can assist with confirmation of the mutation in the tumor(s). HOW do I get more information? Contact email@example.com or firstname.lastname@example.org
There is more information in a conversation in Smart Patients.
Treatment of Cutaneous Leiomyomas with Botulinum Toxin
"Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas with Botulinum Toxin"
This study is ongoing, but no longer recruiting participants.
This NIH study has published a result "The use of botulinum toxin to treat painful cutaneous leiomyomas was associated with improved quality of life and with a trend toward improved pain at rest." Efficacy of Intralesional Botulinum Toxin A for Treatment of Painful Cutaneous Leiomyomas: A Randomized Clinical Trial.
Intravenous Recombinant Human IL-15http://www.clinicaltrials.gov/ct2/show/NCT01021059
"A Phase I Study of Intravenous Recombinant Human IL-15 in Adults With Refractory Metastatic Malignant Melanoma and Metastatic Renal Cell Cancer"
This study has completed. No results yet published.
EXTENSIVE LIST OF RELEVANT RESEARCH ARTICLES
Please refer to our separate "HLRCC Science" document
BACKGROUND of the TERM "HLRCC"
Since the 1950s some benign skin lumps were known to be inherited in some families and the cells have a distinctive appearance under a microscope see Hereditary Multiple Leiomyoma of The Skin, Warner et al. 1958
However the term "myoma" was defined a hundred years before by Virchow in 1854.
The lumps were termed "cutaneous leiomyomas", "cutaneous piloleiomyomas" or "cutaneous pilar leiomyomas". These are benign smooth muscle tumors arising from the arrectores pilorum (singular: arrector pili) muscles associated with the hair follicles of the skin.
Cutaneous leiomyomas are made up of a poorly circumscribed proliferation of haphazardly arranged smooth muscle fibers located in the dermis that appear to infiltrate the surrounding tissue and may extend into the subcutis.
The term "multiple cutaneous leiomyoma" (MCL) was used when several lumps were present. They occur in clusters or singly on arms, legs, and trunk and sometimes on the face. There is a classification of Type 1 for solitary and Type 2 for multiple in cluster patterns. It was then noted by W.B. Reed et al. in a published paper in 1973 that females with this condition also invariably had uterine leiomyomas (fibroids).
The term Reed’s Syndrome or "multiple cutaneous and uterine leiomyomas" (MCUL) was then used to describe this condition. MCL and MCUL are defined in the definition of HLRCC in the Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov/omim/150800
It was nearly 30 years later in 2001 that V. Launonen et al. published a paper linking malignant kidney cancer to the syndrome. This was a major advance from a relatively benign condition to a much more serious possibility of malignant cancer and the term "hereditary leiomyomatosis and renal cell cancer" (HLRCC) was used to describe the condition when kidney cancer was present. HLRCC is defined in MIM ID #605839
In 2002 I.P. Tomlinson et al. identified alterations in the FH gene as being responsible.
To date there are over a 100 different FH gene alterations described in a genetic database.
Unfortunately all these terms are in use to relate to the one condition - MCL, MCUL, MCUL1, Reed’s or Reed Syndrome, HLRCC, LRCC, Fumarate Hydratase (FH) Gene Alteration and Fumarase. This makes searching for information on the Internet very difficult. The acronym HLRCC is not always present to help the search. Also do not be confused by a completely unrelated condition called Familial hypercholesterolemia (abbreviated FH or Fh).
There is further opportunity for misunderstanding in that the Fumarate Hydratase (FH) Gene Alteration is responsible for two distict conditions. (1) HLRCC and (2) Fumarase Deficiency.
This handbook is mainly concerned with hereditary leiomyomatosis and renal cell cancer – caused by single alterations in the FH gene. There is a separate section on Fumarase Deficiency.
Over 100 alterations in the FH gene that cause hereditary leiomyomatosis and renal cell cancer (HLRCC) have now been reported. Most of these alterations replace one amino acid with another amino acid in the fumarase enzyme.
People with HLRCC are born with one altered copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire alterations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division. These changes are called somatic mutations and are not inherited.
FH gene alterations interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the oxygen level detection system in the cell. Stabilization of hypoxia inducible factor (HIF) due to pseudohypoxia (false indication of low oxygen even when oxygen is plentiful) in cells with two altered copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer."
MIM ID *136850 describes the FH gene in http://www.ncbi.nlm.nih.gov/omim/136850
Happens when BOTH parents have an FH alteration
Parent 1 with HLRCC
A = FH Gene Mutation
B = FH Working Gene
Parent 2 with HLRCC
C = FH Gene Mutation
D = FH Working Gene
Each child gets one copy of the FH gene from each parent.
In this way, there are four possible arrangements of these four genes. Each arrangement has a 25% chance.
So there is a 50% chance of having HLRCC and a 25% chance of having fumarase deficiency and a 25% of not having either condition.
With Fumarase Deficiency
A=FH Gene Mutation
C=FH Gene Mutation
A=FH Gene Mutation
D=FH Working Gene
B=FH Working Gene
C=FH Gene Mutation
B=FH Working Gene
D=FH Working Gene
Shown here is a 25% chance of developing Fumarase Deficiency based on both parents having a FH alteration. Fumarase Deficiency is a Autosomal Recessive condition as it requires both genes to have alterations (though not necessarily the same alteration).
For more information http://www.nlm.nih.gov/medlineplus/ency/article/002049.htmFrom Genetics Home Reference: http://ghr.nlm.nih.gov/gene/FH
fumarase deficiency - caused by alterations in the FH gene usually from both parents. It is also known by the name of fumaric aciduria.
Approximately 17 FH gene alterations that cause fumarase deficiency have been reported. However many (if not all) FH gene alterations probably have the potential to cause this condition, but are not seen because they would be incompatible with fetal life. Fumarase deficiency occurs in individuals who inherit two altered copies of the FH gene in each cell. (This is different from HLRCC, in which individuals have one altered copy and one normal copy of FH in each cell). In fumarase deficiency, most of these alterations replace one protein building block (amino acid) with another amino acid in the fumarase enzyme. These changes disrupt the ability of the enzyme to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency (also known as fumaricaciduria). This is defined in MIM ID #606812
http://www.ncbi.nlm.nih.gov/omim/606812. Fumarase deficiency has had widespread publicity because of its polygamy connections see www.childbrides.org/taxes_PNT_forbidden_fruit.html
Symptoms and Diagnosis
The condition has considerable variation from relatively mild symptoms to very severe leading to an early death. The new born baby has brain defects leading to seizures and doesn’t develop normally. There may be distinctive facial appearance. This link http://rarediseases.info.nih.gov/GARD/Condition/6476/QnA/37149/Fumarase_deficiency.aspx provides a more comprehensive description. A high level of fumaric acid level in the urine is a key indicator. MRI scans of the brain can be used to see the extent of malformation. A genetic test to determine the FH gene alterations is the definitive test. The parents would also be tested for FH gene alteration as they would normally each have the HLRCC condition.
Treatment and Management
There is no cure for fumarase deficiency and treatment is attending to the conditions symptomatically to prevent further harm, as in the case of seizures. Depending on severity suitable diets may help with feeding difficulties and a wheelchair to provide physical support may be useful. This link Lacosamide-Responsive Status Epilepticus And Epileptic Spams In Fumarase Deficiency (P2.186) gives a case study of successful treatment for the epileptic symptom using lacosamide after other treatments had failed.
HOW DO CHANGES IN DNA CAUSE CHANGES IN FUMARASE?
If your genetic test results show that you have an alteration in your fumarase gene, you may have questions about what the letters, numbers, and symbols that describe the alteration mean. You may also wonder how changes in the DNA of your fumarase gene interfere with the making of fumarase in your cells.
The Krebs Cycle was discovered by Hans A. Krebs. It takes place in the innermost space of the mitochondria and requires the presence of oxygen. Together with the electron transport chain, it produces most of the cells' energy.
GLOSSARY: Definitions of Commonly Used HLRCC Terms
Assay – Used to measure the quantity of fumarase enzyme in a sample of skin cells.
Autosomal - when the gene defect is located on one of the 22 regular chromosomes and not on a sex chromosome (X or Y). The result is that males and females may have the condition, in approximately equal numbers.
Citric Acid Cycle - see Krebs Cycle.
CT Scan - Computed Tomography also known as CAT (Computerized Axial Tomography) uses a computer to combine many x-ray images to generate cross-sectional views and 3-dimensional images of internal organs and structures of the body.
Cutaneous - Pertaining to the skin - not only the skin surface, but also in the skin layers.
Dominant - a gene is dominant when it is only necessary to have one altered copy of the gene in order to have the condition. Consequently, if the gene is autosomal (on a chromosome other than the X or Y chromosome), there is a 50% chance of a child inheriting the condition.
FH - Fumarate Hydratase, the enzyme encoded by the gene associated with HLRCC
Fibroid - is a benign (non-cancerous) tumor that originates from the smooth muscle layer of the uterus and its connective tissue. It is a uterine leiomyoma.
Fumarase - (or fumarate hydratase) is an enzyme that catalyzes the reversible hydration/dehydration of Fumarate to S-malate in the Krebs Cycle.
Fumarate - This chemical is formed during the basic cell energy cycle known as the Citric Acid Cycle or Krebs Cycle.
Genotype – This is the specific genetic information of the cells in your body.
HLRCC - Hereditary Leiomyomatosis and Renal Cell Cancer.
Hereditary - passed from one generation to the next.
Krebs Cycle - is a series of chemical reactions which is used by all aerobic living organisms to generate energy through the oxidization of acetate derived from carbohydrates, fats and proteins into carbon dioxide and water.
Leiomyoma - an abnormal growth of smooth muscle tissue. In HLRCC there are cutaneous and uterine leiomyoma.
Leiomyomata - the correct Latin plural form of leiomyoma. However most articles now use leiomyomas instead.
Leiomyomatosis - means the occurrence of leiomyomas in the body.
LOH - Loss of Heterozygosity - HLRCC tumors are found to have no fumarase activity, which is termed Loss of Heterozygosity (LOH) for FH. The two alleles of the FH gene were different (one altered) but now they are both altered. This represents the "second hit" to FH gene function in this one cell, the loss of the normal function of the second copy of the FH gene through somatic alteration.
Metastasize - when cancerous cells break off from the primary tumor and travel to other parts of the body and start new secondary tumors.
MRI Scan - Magnetic resonance imaging, a type of scan that uses no ionizing radiation. It provides good contrast between the different soft tissues of the body. Gadolinium contrast is used to enhance the 3d-image.
PET/CT Scan - Positron Emission Tomography (PET) combined with an x-ray Computed Tomography (CT) is used to trace glucose metabolism (using fluorodeoxyglucose, FDG). High uptake is seen in HLRCC tumors. http://www.radiologyinfo.org/en/info.cfm?pg=pet.
Phenotype - These are the actual observed symptoms that you have which researchers try to match to your genetic alteration – see Genotype.
Piloleiomyoma - the full name of the benign skin lump, sometimes preceded by the word "cutaneous" or shortened to just "leiomyoma"
Primary Tumor - a tumor which has developed in its original place, grown from a single cell.
Progress - to continue to get worse, a term used for cancer which has worsened, such as increased tumor size or cancer spread.
Recessive - a gene is recessive when it is necessary to have two altered copies of the gene in order to have the condition (though not necessarily the same alteration).
Remission - used in conjunction with the words "complete" and "partial". Complete remission is no sign of any remaining cancer. Partial remission is an improvement, tumor shrinkage or less activity etc.
Clear cell Renal Cell Carcinoma (RCC) - is the most common type of kidney cancer in adults (carcinoma = a type of cancer).
RCC Classification - there are many forms of RCC, including Clear Cell (most common), Papillary I and II, Clear Cell Tubulopapillary, Chromophobe, Oncocytic, Collecting Duct and Non-classified. Classification of the cell type is made by a pathologist trained in the types of renal cancer.
Scan Types - There are several different types of scan - See entries for MRI, CT, PET/CT, Ultrasound, and Bone.
TCA - tricarboxylic acid cycle see Krebs Cycle.
Ultrasound Scan - An ultrasound scan is a painless test that uses sound waves to create images of organs and structures inside your body. It can be used on kidneys, but there is a risk that not all tumors will be detected. In HLRCC it can be useful to track fibroids in the uterus.
HANDOUTS for PRINTING
On the following pages is a separate small document which can be modified for your own use
Family Letter (to send to relatives of someone recently diagnosed with HLRCC)
To Members of the ___________ Family,
I hope this letter finds all of you happy and in good health. My main reason for writing this is to inform my relatives of a hereditary medical condition that I have been diagnosed with. The condition is extremely rare in the general population, but it runs in families. Since I have it, this means that others in the family are at risks up to 50%. It is called Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). The kidney cancer component of this disease can be fatal if not treated in time.
I am hoping that you will act on this information since this is a hereditary condition. We all have a risk as high as 50% of having the gene alteration. If we have it, our children have a 50% chance of having it (and so on). Consequently, some members of a particular branch of the family may have members with the condition while others are free of it. Having a genetic test is the best way to be diagnosed with the condition. Even if you decide not to be genetically tested I encourage you to seek screening advice, actions you can take to watch for signs of trouble.
People with this condition are susceptible to the development of the following:
- Uterine Fibroids in females, often early onset, multiple, large and symptomatic, usually detected in the 20's and 30's, may impact the ability to have children, and often lead to hysterectomy.
- Skin Leiomyomas (non-cancerous growth) of the skin, usually on the stomach, back, arms and legs, can be isolated or clustered lesions or can be disseminated (segmental), sometimes painful or may not hurt, and typically onset is in 30's but have been seen in children. They usually appear as small firm, pink raised growths (sometimes white) or bumps in clusters and are difficult to diagnose yourself: http://www.dermnet.com/Leiomyomata/photos/1
- Kidney Cancer - individual risk is not completely known at this time, but a high percentage of adults with this condition have been found to have kidney tumors. The average age of symptomatic kidney cancer is 44, but we think that survival is better when tumors are found before symptoms occur. Even children have been diagnosed with this type of kidney cancer
Those with HLRCC need to be screened annually for kidney tumors, preferably by a thin sliced MRI with contrast. Even small tumors have been known to metastasize (spread) so annual screening is the very best way to catch tumors as early as possible.
The HLRCC Family Alliance is a strong organization that can help address your questions and concerns. Go to http://www.hlrccinfo.org to access a detailed handbook and to join the support group. You can also find information about a large on-going study at the National Institutes of Health (US-NIH) that you may be able to participate in should you test positive for HLRCC.
Please call me at _____________________ to discuss this letter further. You can also call their toll free number:
1-800-767-4845 ext. 709 or +1-617-277-5667 ext. 709
or write to:
HLRCC Family Alliance c/o VHLFA,
2001 Beacon Street,
Suite 208, Boston,
Love to you all.