FH-deficient uterine leiomyoma: A rare case report highlighting diagnostic and clinical challenges

Fumarate hydratase (FH)-deficient uterine leiomyomas are a rare subtype of fibroids with distinctive histological and immunohistochemical features. We report the case of a 44-year-old nulligravida presenting with chronic pelvic pain for 2 years and an enlarged abdomen. Pelvic ultrasound revealed a polymyomatous uterus with the largest myoma measuring 14 cm, and MRI confirmed multiple leiomyomas with signs of pelvic congestion. The patient underwent polymyomectomy, and histopathological analysis identified an Fumarate hydratase (FH)-deficient leiomyoma. This entity is important to recognize given its potential association with Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC), warranting careful diagnosis, appropriate surgical management, and consideration of genetic counseling.