Hereditary Leiomyomatosis and Renal Cell Cancer

HLRCC is a genetic condition that affects the skin, uterus and kidneys.

The HLRCC Foundation is dedicated to patient advocacy, awareness and research in Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).

HLRCC at a glance

HLRCC is caused by mutations in the FH gene, which provides instructions for making an enzyme called fumarate hydratase.

50%

HLRCC is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Early

Detecting kidney cancer early in individuals with HLRCC before it spreads can be life saving.

Resources

Guides and tools for HLRCC

Start with the resource that fits you best.

Handbook
Specialist map
Videos
Genetic testing

HLRCC Handbook

Living with HLRCC: a plain-language guide for patients and families.

World map with pins where HLRCC specialists are listed

Find an HLRCC specialist

Clinicians and centers with public evidence of experience caring for people with HLRCC.

Open the specialist map

Video still titled HLRCC Syndrome, showing kidneys, skin and uterus

Video resources

Short explainers, science lectures, expert talks and symposium sessions about HLRCC, free to watch on our YouTube channel.

Watch the videos

A saliva collection tube used for a genetic test

Genetic testing for HLRCC

What a genetic test for HLRCC looks for, and how to get tested.

Learn about genetic testing

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HLRCC at a glance

Comic panel 1 of 12, What is HLRCC? Picture: a family of four standing together, a grandmother, a mother, a father and a teenage daughter. Text: HLRCC is short for hereditary leiomyomatosis and renal cell cancer, and HLRCC is the preferred name. It is sometimes referred to as FH tumor predisposition syndrome. People with HLRCC are born with a harmful change in one copy of their FH gene. Having HLRCC does not mean you have cancer or that you will get it.

Opens the HLRCC Handbook.

Comic panel 2 of 12, Skin bumps (leiomyomas). Picture: a dermatologist with a magnifying glass looks at a patient's forearm. Text: See a skin doctor (dermatologist) every 1 to 2 years for a full skin check. These skin bumps are non-cancerous (benign).

Opens the HLRCC Handbook.

Comic panel 3 of 12, Fibroids in the uterus. Picture: a gynecologist points to a model of a uterus while talking with a woman patient. Text: Fibroids are common in women with HLRCC. Most women with HLRCC-related fibroids have heavy or irregular periods, and many have pelvic pain. See a gynecologist who knows about HLRCC. Ask how often you should be checked.

Opens the HLRCC Handbook.

Comic panel 4 of 12, Kidney cancer risk. Picture: 100 small person icons, some colored and most gray, next to the words 15 to 30 out of every 100. Estimates vary widely. NCI's summary: most estimates 15 to 30 in 100; a 2020 study of large genetic databases suggests lower. Text: Most people with HLRCC do not get kidney cancer. If a scan finds a tumor, it should be removed by surgery soon, even if it is small.

Opens the HLRCC Handbook.

Comic panel 5 of 12, A kidney MRI every year. Picture: a child lies on an MRI scanner table while a technologist and a parent reassure him. Text: From age 8, a yearly kidney MRI, for life. Your urologic oncologist or medical oncologist will decide the exact timing. Ask for a kidney MRI with 1 to 3 mm slices through the kidneys. An ultrasound alone is never enough to check the kidneys in HLRCC.

Opens the HLRCC Handbook.

Comic panel 6 of 12, Rare: paraganglioma or pheochromocytoma. Picture: drawing of the two kidneys with an adrenal gland on top of each, labeled adrenal glands and kidneys. Text: A few specific FH changes raise the chance of a rare tumor in an adrenal gland (pheochromocytoma) or along nerves elsewhere (paraganglioma). In HLRCC studies it is uncommon: roughly 1 person in 100.

Opens the HLRCC Handbook.

Comic panel 7 of 12, Genetic testing. Picture: a laboratory scientist holds a sample tube next to a DNA double helix. Text: A genetic test on a blood or saliva sample looks for a change in the FH gene.

Opens the HLRCC Handbook.

Comic panel 8 of 12, Passing it on. Diagram: a parent who has the FH change and a parent with no FH change; each child: 50% got the change, 50% did not. Key: changed FH copy, working copy. Text: Each child of a parent with HLRCC has a 50% chance of inheriting the FH change, like a coin toss.

Opens the HLRCC Handbook.

Comic panel 9 of 12, Family members. Picture: a genetic counselor shows a simple family tree on a tablet to an adult brother and sister. Text: Brothers, sisters and parents of a person with HLRCC may also have the same change. A genetic counselor can help you decide about testing and explain what results mean.

Opens the HLRCC Handbook.

Comic panel 10 of 12, If both parents carry an FH change. Diagram: two parents who each have one changed FH copy, and a child with two changed copies. Text: If both parents carry an FH change, a baby can be born with two changed copies. This causes fumarase deficiency, a very rare and severe condition that starts in newborns.

Opens the HLRCC Handbook.

Comic panel 11 of 12, Planning a family? Picture: a young couple sits on a sofa, holding hands and talking. Text: Talk with your gynecologist early about timing. A genetic counselor can explain your options, including testing during pregnancy or IVF with embryo testing.

Opens the HLRCC Handbook.

Comic panel 12 of 12, Where to get help in the United States. Find an HLRCC specialist: hlrcc.org/hlrcc-map. Ask your doctor for a referral to a genetic counselor: findageneticcounselor.nsgc.org. Learn more and connect with other families: hlrcc.org.

Opens the HLRCC Handbook.

Keep reading in the HLRCC HandbookOpen the full Handbook

Pause slideshowSlideshow paused

Slide 1: What is HLRCC?
Slide 2: Skin bumps (leiomyomas)
Slide 3: Fibroids in the uterus
Slide 4: Kidney cancer risk
Slide 5: A kidney MRI every year
Slide 6: Rare: paraganglioma or pheochromocytoma
Slide 7: Genetic testing
Slide 8: Passing it on
Slide 9: Family members
Slide 10: If both parents carry an FH change
Slide 11: Planning a family?
Slide 12: Where to get help in the United States
Slide 13: Keep reading in the Handbook

Start here

How can we help you today?

Understand HLRCC

Plain answers to common questions, the HLRCC Handbook and video resources.

Read the FAQ →

Find a specialist

Our map of physicians and genetic counselors who know HLRCC, plus VHL Alliance care centers.

Open the map →

The Handbook

Plain-language guide to HLRCC, check-ups and research studies.

Read the Handbook →

Community

Connect with other patients and families online, and get our newsletter.

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Find an HLRCC specialist

Research

Research and news

NIH study

How do I enroll in the HLRCC Natural History Study?

How to reach the NIH for expert opinion, and how to take part in research on HLRCC.

Enrollment details →

News

A New Standard of Hope: What the NEJM Bevacizumab and Erlotinib Trial Means for HLRCC Kidney Cancer

Read the article →

Clinical trials

How do I find a clinical trial?

Clinical trials are critical for advancing the treatment and management of HLRCC.

Search ClinicalTrials.gov →

Community

You are not alone

“This is definitely a knowledge is power situation… if something does come up and we catch it early, it could be a curable event.”

Quoted in “Advances in Care Help Save Young HLRCC Patient,” NIH Record

HLRCC Facebook group

A space for individuals and families affected by HLRCC to connect and support one another.

Smart Patients community

Share information with others living with HLRCC.

Research updates, events and resources by email.

Support our work

Support patient advocacy, awareness and research

The HLRCC Foundation is a 501(c)(3) nonprofit. Your gift helps patients and families find information, expert care and each other.

HLRCC is a genetic condition that affects the skin, uterus and kidneys.

HLRCC at a glance

Guides and tools for HLRCC

HLRCC Handbook

Find an HLRCC specialist

Video resources

Genetic testing for HLRCC

HLRCC at a glance

How can we help you today?

Understand HLRCC

Find a specialist

The Handbook

Community

Find an HLRCC specialist

Research and news

How do I enroll in the HLRCC Natural History Study?

A New Standard of Hope: What the NEJM Bevacizumab and Erlotinib Trial Means for HLRCC Kidney Cancer

How do I find a clinical trial?

You are not alone

HLRCC Facebook group

Smart Patients community

Newsletter

Real stories

Laura Esfeller

10 year survivor of metastatic kidney cancer (audio)

Dylan Wisman: Former Mizzou wrestler

Dr. Cheryl Bahar

Power of Persistence

Andrew Lee

A Boxing Champ’s Biggest Fight

My Battle with Rare Kidney Cancer

Lynn

Michele Tate

Clare

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