Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a rare genetic condition characterized by the development of benign smooth muscle tumors called leiomyomas in the skin and uterus, and an increased risk of developing aggressive kidney cancer known as renal cell carcinoma (RCC).
HLRCC is caused by mutations in the FH gene, which provides instructions for producing an enzyme called fumarate hydratase. This enzyme is involved in the energy production process within cells. When the FH gene is mutated, it leads to a buildup of fumarate, a molecule that can trigger the growth of tumors.
Individuals with HLRCC may experience symptoms such as multiple skin leiomyomas, heavy or painful menstrual periods, and fertility issues. The risk of developing RCC is significantly increased, and affected individuals are often diagnosed at a younger age compared to the general population.
Early detection and management of HLRCC are crucial to minimize the risk of RCC progression. Regular screenings, including imaging tests and genetic counseling, are recommended for individuals with a family history of HLRCC or those presenting with related symptoms.