Overview
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare inherited condition that causes benign smooth muscle tumors called leiomyomas to grow in the skin and, in women, the uterus. It also significantly raises the risk of a specific and aggressive type of kidney cancer. HLRCC is sometimes called Reed syndrome, especially when referring to the skin and uterine features. The condition is caused by a change (mutation) in a gene called FH, which normally helps cells produce energy. When this gene does not work properly, cells can grow in abnormal ways. People with HLRCC often first notice firm, sometimes painful bumps on their skin, usually on the arms, legs, chest, or back. Women frequently develop uterine fibroids (leiomyomas) at a younger age than usual, and these can be larger and more numerous than typical fibroids, often causing heavy periods and pelvic pain. The kidney cancer associated with HLRCC — called type 2 papillary renal cell carcinoma — tends to be aggressive and can spread early, so regular kidney surveillance is very important. Treatment focuses on managing symptoms and monitoring for cancer. Skin lesions can be treated with medications or minor procedures. Uterine fibroids may require surgery. Kidney tumors, if found, are usually treated surgically. There is no cure for the underlying genetic condition, but careful surveillance can catch kidney cancer early when it is most treatable. Genetic counseling is strongly recommended for patients and their families.
Also known as:
Key symptoms:
Firm, sometimes painful skin bumps (cutaneous leiomyomas), often on the arms, legs, chest, or backSkin bumps that may hurt more in cold temperatures or when touchedUterine fibroids (benign muscle tumors in the womb) appearing at a younger age than usualHeavy or prolonged menstrual periodsPelvic pain or pressureNeeding surgery for uterine fibroids at a young ageA lump or mass in the kidney found on imagingBlood in the urineBack or side pain near the kidneysUnexplained weight loss (if kidney cancer is present)Fatigue
Clinical phenotype terms (11)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Hereditary leiomyomatosis and renal cell cancer.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary leiomyomatosis and renal cell cancer.
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Questions for your doctor
Bring these to your next appointment
- Q1.How often should I have kidney MRI scans, and what exactly are you looking for?,Should my children, siblings, and parents be tested for the FH gene mutation?,What are my options for managing the pain from my skin leiomyomas?,If I develop a kidney tumor, what are my treatment options and how quickly does it need to be treated?,Are there any clinical trials I should know about for HLRCC-related kidney cancer?,What should I do if I notice new or changing skin bumps or symptoms?,Should I see a gynecologist who specializes in HLRCC, and what monitoring do I need for uterine fibroids?
Common questions about Hereditary leiomyomatosis and renal cell cancer
What is Hereditary leiomyomatosis and renal cell cancer?
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare inherited condition that causes benign smooth muscle tumors called leiomyomas to grow in the skin and, in women, the uterus. It also significantly raises the risk of a specific and aggressive type of kidney cancer. HLRCC is sometimes called Reed syndrome, especially when referring to the skin and uterine features. The condition is caused by a change (mutation) in a gene called FH, which normally helps cells produce energy. When this gene does not work properly, cells can grow in abnormal ways. People with HLRCC often first noti
How is Hereditary leiomyomatosis and renal cell cancer inherited?
Hereditary leiomyomatosis and renal cell cancer follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary leiomyomatosis and renal cell cancer typically begin?
Typical onset of Hereditary leiomyomatosis and renal cell cancer is adult. Age of onset can vary across affected individuals.
Which specialists treat Hereditary leiomyomatosis and renal cell cancer?
6 specialists and care centers treating Hereditary leiomyomatosis and renal cell cancer are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.