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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

The information on this page was reviewed and approved by
Maurie Markman, MD, President, Medicine & Science at CTCA.

This page was updated on September 21, 2021.

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an inherited disease that causes growths on the skin and in the uterus and increases the risk of kidney cancers.

Also known as multiple cutaneous and uterine leiomyoma, or Reed’s syndrome, HLRCC is rare. It’s unknown exactly how many people have it because HLRCC may be underdiagnosed, but it’s been reported in about 300 families worldwide, according to the U.S. National Library of Medicine (NLM).

The association between this genetic disorder and uterine and skin growths was first discovered in 1973. It wasn’t until 2001 that researchers discovered the link to an increased risk of developing kidney cancer.

Most HLRCC patients may not develop kidney cancer. According to the NLM, 10 percent to 16 percent develop an aggressive type of kidney cancer known as papillary type II renal cell carcinoma. On average, it develops around age 44. This cancer may spread outside the kidneys, so it's important to get regular screenings for early detection.

Causes of hereditary leiomyomatosis and renal cell carcinoma

HLRCC is caused by a genetic mutation. The body’s genetic code has the instructions cells use to make proteins that form their structures and perform their functions. It also acts to help ensure these cells don’t start growing out of control.

When a cell’s genetic code breaks, or mutates, they may start to develop unusual growth patterns and sometimes become cancerous. Genetic mutations may be passed down from parent to child—these are known as hereditary or inherited mutations.

HLRCC is caused by an inherited mutation in the FH gene. FH normally makes the enzyme called fumarate hydratase, which plays an important role in providing energy for your cells.

Usually, cells in your body have two working copies of genes—one as a backup in case the other mutates. These mutations may happen naturally due to environmental exposures, such as to ultraviolet (UV) light or toxins, or because the cells make a “typo” when copying the genetic code. But if you’ve inherited a mutated copy of the gene and the backup copy mutates in some cells, those cells may run into problems.

This is what happens with the FH gene in HLRCC. The backup gene in some of the body’s cells mutates, and this may lead to the cells losing control of their growth and becoming tumors.

Risk factors for hereditary leiomyomatosis and renal cell carcinoma

You’re at risk of inheriting a mutated HLRCC gene if either of your parents has a mutated copy. The gene is inherited in what’s called an autosomal dominant pattern, which means you only need one mutated copy of the gene to have the syndrome.

Everyone has two copies of most genes. If one of your parents has a copy of the mutated gene, there’s a 50/50 chance they passed it to you. If they do pass it down, you’ll have the syndrome, though it’s possible you won’t have symptoms.

It’s possible for the mutation in the FH gene to happen spontaneously in a healthy sperm or egg, resulting in a new mutation that gives rise to HLRCC without a parent passing it down. It’s not known whether there are specific factors that increase the likelihood of this happening.

Symptoms of hereditary leiomyomatosis and renal cell carcinoma

Not all patients with the mutated FH gene show symptoms of HLRCC. Symptoms may differ from parent to child, even if they have the same genetic mutation.

First, the syndrome leads to the development of smooth muscle growths called leiomyomas. These noncancerous growths usually develop in the uterus and on the skin of the abdomen, extremities and face. They typically develop between the ages of 10 and 50, and will increase in number and size as time passes.

In the skin, these growths are called cutaneous leiomyomas, and they look like either small bumps that are firm to the touch (known as papules) or tiny lumps (called nodules). They may be skin-colored, brownish or reddish and sometimes resemble a rash. They develop from the muscle tissue in the hair follicles that give skin goosebumps.

These skin growths are touch- and cold-sensitive and sometimes painful. For some patients, they’re spread out over a large area of the body. Others may just have a few small growths.

Smooth muscle growths on the uterus, called uterine leiomyomas or fibroids, are quite common and don’t usually cause problems. But in patients with HLRCC, they’re larger than average and show up earlier in life than usual—and there are more of them. Though extremely rare, these growths sometimes turn into leiomyosarcomas, which are cancerous tumors that can spread.

These growths may cause symptoms ranging from heavy periods to pelvic pressure and pain. Most HLRCC patients who develop uterine growths are diagnosed between age 18 and 52.

The syndrome also increases the risk of developing type II papillary renal cell carcinoma and other kidney cancers, including tubulopapillary and renal collecting duct carcinomas.

Type II papillary renal cell carcinoma may be more aggressive, with a tendency to spread earlier and faster than other types of renal cell carcinoma. The tumors that develop in the kidney in patients with HLRCC are usually single and small and generally don't cause symptoms, but they may still metastasize and spread. Symptoms of a cancerous kidney tumor include:

  • Pain in the lower back
  • Blood in the urine
  • Lump in the abdomen

How hereditary leiomyomatosis and renal cell carcinoma is diagnosed

If you have skin growths and uterine fibroids, your doctor may suspect HLRCC. You may be asked about your medical and family history and your symptoms. Your doctor may examine any skin growths or take a sample to study the cells under a microscope.

Your doctor also may order tests to see whether your FH proteins are working correctly or whether you have a mutated copy of the FH gene. Children suspected of having the mutated FH gene should be tested between age 8 and 10.

Treatments for hereditary leiomyomatosis and renal cell carcinoma

Treatments for HLRCC are focused on easing bothersome symptoms. You’ll likely need multiple doctors for different symptoms.

Uterine leiomyomas may be treated using hormone blockers, drugs called gonadotropin-releasing medications or pain relievers. If uterine growths are causing unbearable symptoms, HLRCC patients may undergo a myomectomy to remove them and repair damage. The entire uterus may eventually need to be removed to fully relieve symptoms—usually earlier in life than many other patients with uterine fibroids.

Skin lesions aren’t typically treated, as this can lead to scarring. If the growths are large, painful or unsightly, it’s possible to surgically remove them or to kill the cells with a laser or cryotherapy (freezing). A variety of medications may also be used to treat pain from skin lesions.

Because renal cell carcinomas may not show any symptoms until they’re advanced, if you have the syndrome, you may need to be screened yearly for kidney cancer. HLRCC patients usually start yearly screenings around age 10. This involves imaging tests, such as a computed tomography (CT) scan or magnetic resonance imaging (MRI), that look for growths on your kidneys.

If renal cell carcinoma develops, it needs to be removed. Because these cancers are aggressive, in some cases that means taking out the entire kidney.

Survival rates for renal cell carcinoma caused by hereditary leiomyomatosis and renal cell carcinoma

HLRCC increases the risk of developing kidney cancer. Renal cell carcinoma is the most common type of kidney cancer. The leiomyoma growths that also develop aren’t cancerous, and therefore likely pose little threat.

HLRCC patients who develop kidney cancer are at risk of it spreading and potentially becoming fatal. Because this specific type of renal cell carcinoma is more aggressive than others, the survival rate may be lower than the numbers for all renal cell carcinomas included below—though there aren’t enough patients to get a good estimate of survival rate.

Kidney cancer generally has a five-year survival rate of 75.6 percent, meaning that three-fourths of people diagnosed with kidney cancer are alive five years later, according to the National Cancer Institute's Surveillance, Epidemiology, and End Results Program (SEER) database.

Below, find five-year survival rates broken down into three categories, based on how far cancer has spread when it’s discovered.

  • Local renal cancers, located only in the kidney: 92.7
  • Regional kidney cancers, which have spread to nearby tissues: 71 percent
  • Distant kidney cancers, which have spread (metastasized) to organs farther away: 13.9 percent

If you have HLRCC, regular screening increases the likelihood that doctors can detect any cancers that develop early.

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