How a woman’s myomectomy saved her father’s life: evidence of fumarate hydratase deficient uterine leiomyoma and early detection of germline variants in Fumarate Hydratase

Pathogenic variants in should be suspected in patients with early-onset uterine leiomyomas and a family history of cutaneous and/or uterine leiomyomas. Familial variant testing is crucial in identifying relatives at risk to start early screening.