About Hereditary Leiomyomatosis and Renal Cell Carcinoma

What is Hereditary Leiomyomatosis and Renal Cell Carcinoma?

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is an inherited disorder that is characterized by the development of multiple benign tumors (leiomyomas) in the skin and other organs, as well as an increased risk of developing a type of kidney cancer called renal cell carcinoma. People with HLRCC have a mutation in the fumarate hydratase (FH) gene, which is responsible for producing an enzyme that helps break down certain molecules in the body. The lack of this enzyme leads to the buildup of fumarate, which can cause the development of tumors and cancer.

What are the symptoms of Hereditary Leiomyomatosis and Renal Cell Carcinoma?

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a rare inherited disorder that affects the skin, muscles, and kidneys. Symptoms of HLRCC include:

-Multiple cutaneous leiomyomas (benign tumors of the skin)

-Uterine leiomyomas (benign tumors of the uterus)

-Renal cell carcinoma (a type of kidney cancer)

-Kidney cysts

-High blood pressure

-Kidney failure

-Abnormal blood clotting

-Abnormal calcium levels

-Abnormal liver function tests

-Abnormal cholesterol levels

-Abnormal glucose levels

-Abnormal uric acid levels

-Abnormal thyroid function tests

-Abnormal kidney function tests

What are the causes of Hereditary Leiomyomatosis and Renal Cell Carcinoma?

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a rare inherited disorder caused by mutations in the FH gene. Mutations in this gene lead to an increased risk of developing benign tumors of the skin and other organs, as well as an increased risk of developing renal cell carcinoma (RCC), a type of kidney cancer.

What are the treatments for Hereditary Leiomyomatosis and Renal Cell Carcinoma?

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a rare genetic disorder that affects the skin, muscles, and kidneys. Treatment for HLRCC is focused on managing the symptoms and preventing the development of cancer.

Symptomatic treatment for HLRCC includes:

1. Surgery: Surgery may be used to remove tumors or other abnormal growths.

2. Radiation therapy: Radiation therapy may be used to shrink tumors or reduce the risk of cancer.

3. Medications: Medications may be used to reduce pain or other symptoms associated with HLRCC.

4. Physical therapy: Physical therapy may be used to help manage muscle weakness or other physical limitations.

Preventative treatment for HLRCC includes:

1. Regular screening: Regular screening for

What are the risk factors for Hereditary Leiomyomatosis and Renal Cell Carcinoma?

1. Family history of Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC)
2. Inheriting a mutation in the FH gene
3. Being of African-American descent
4. Being female
5. Having a history of kidney stones
6. Having a history of high blood pressure
7. Having a history of obesity
8. Having a history of smoking
9. Having a history of radiation exposure
10. Having a history of certain medications, such as cyclosporine

Is there a cure/medications for Hereditary Leiomyomatosis and Renal Cell Carcinoma?

There is currently no cure for Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC). However, there are medications that can help manage the symptoms and slow the progression of the disease. These medications include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and statins. Additionally, there are several clinical trials underway that are researching potential treatments for HLRCC.