Rare Diffuse Uterine Leiomyomatosis: Clinical Features and Outcomes in Nine Cases with Literature Review

Abstract Background Diffuse uterine leiomyomatosis (DUL) is a rare variant of uterine leiomyomas, characterized by ill-defined, cobblestone-like nodules throughout the myometrium, frequently associated with menorrhagia, anemia, and infertility. This study aimed to analyze the clinical features, diagnostic approaches, treatment strategies, and prognostic outcomes of DUL. Methods We enrolled nine DUL patients diagnosed via imaging or intraoperative confirmation, who were admitted to the Women’s Hospital of Nanjing Medical University between January 2020 and April 2024. We retrospectively collected and analyzed their clinical data, including symptoms, diagnostic methods, treatments, and follow-up outcomes. Results Mean age at onset was 26.67±4.22 years (18–33 years). Eight cases (88.89%) presented with menorrhagia accompanied by anemia, with a mean lowest hemoglobin value of 87.38±27.10g/L (55–126 g/L). Pelvic magnetic resonance imaging (MRI) suggested DUL in eight cases (88.89%). All patients underwent surgery, four (44.44%) received total abdominal/laparoscopic hysterectomy, four (44.44%) underwent transabdominal myomectomy, and one (11.11%) underwent laparoscopic myomectomy. During a mean follow-up of 45.00 months (15–67 months), and all patients exhibited significant symptom improvement. Among the five fertility-sparing cases, one (20.00%) achieved a successful pregnancy, one (20.00%) required hysterectomy later, and three (60.00%) had no immediate fertility demands. Conclusion DUL is associated with early onset, anemia and a high recurrence rate. Imaging (particularly MRI) is the primary diagnostic method, and DUL should be distinguished from common multiple uterine fibroids. Hysterectomy is the standard treatment for non-fertility cases, while myomectomy or resection of diffuse lesions is recommended for fertility preservation.