About HLRCC

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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC) is a genetic disorder that can affect multiple organs, particularly the skin, uterus, and kidneys. It is caused by mutations in the FH gene, which is responsible for producing the enzyme fumarate hydratase.

People with HLRCC often develop benign smooth muscle tumors, known as leiomyomas, on their skin and in the uterus. These tumors can lead to significant discomfort. More critically, individuals with HLRCC face a higher risk of developing an aggressive form of kidney cancer.

HLRCC is inherited in an autosomal dominant pattern, meaning that each child of an affected parent has a 50% chance of inheriting the condition. Genetic testing can confirm a diagnosis and plays a crucial role in early detection and monitoring. Identifying kidney cancer at an early stage—before it has spread—can be life-saving for individuals with HLRCC.