Diffuse Uterine Leiomyomatosis: A Retrospective Study of Clinical Features and Outcomes in Nine Cases with Literature Review.

PURPOSE: 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. PATIENTS AND 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±4.35 years (18-33 years). Eight cases (88.89%) mainly presented with menorrhagia, seven of which were accompanied by anemia (77.78%). Pelvic magnetic resonance imaging (MRI) indicated 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 53.22±19.19 months (25-76 months), and all patients exhibited significant symptom improvement. Of the five patients who received fertility-preserving surgery, one patient (20.00%) developed MRI-documented recurrence of DUL 42 months after surgery, followed by subsequent total hysterectomy; one patient developed irregular menstrual bleeding 45 months postoperatively and was subsequently treated with gonadotropin-releasing hormone agonist (GnRHa). The remaining three patients had small leiomyomas detected by gynecological ultrasound, but no clinical recurrence of symptoms was observed. Among these three patients, one achieved full-term pregnancy; the remaining two patients had no immediate fertility plans. CONCLUSION: DUL is associated with early onset and anemia, and appears to carry a risk of recurrence following fertility-sparing surgery. 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.