Hereditary Leiomyomatosis
Hereditary Leiomyomatosis is a genetic condition characterized by the development of multiple smooth muscle tumors, known as leiomyomas, primarily in the uterus and skin. These tumors can cause symptoms such as pain and heavy menstrual bleeding. The condition is linked to mutations in the FH gene, which plays a role in cellular energy production.
Individuals with Hereditary Leiomyomatosis may also have an increased risk of certain cancers, particularly renal cell carcinoma. Diagnosis typically involves imaging studies and genetic testing. Management often includes monitoring and, in some cases, surgical intervention to remove problematic tumors.