An Unusual Presentation in a Patient with Leiomyomatosis Peritonealis Disseminata

Abstract

Introduction: Leiomyomatosis Peritonealis Disseminata (LPD) is a rare disease that primarily affects reproductive-age women with less than 200 cases reported to date. Typically, it is associated with dysmenorrhea and pelvic pain. We present a case of LPD with symptoms similar to biliary colic. Case Presentation: Patient is a 47 year old female who presented with right upper quadrant pain and nausea for the past month. Her medical history included hysterectomy 10 years ago secondary to uterine leiomyoma and resection of anterior abdominal wall and pelvic leiomyomas. Physical examination revealed tenderness to palpation in the right upper quadrant. Labs at time of admission included: Total Bilirubin 1.2 mg/dL, Conjugated Bilirubin 0.7 mg/dL, Alkaline Phosphatase 55 U/L, Aspartate Aminotransferase 17 U/L and Alanine Aminotransferase 55 U/L. CT imaging showed lobulated, malignant-appearing, soft tissue mass abutting or arising from the lateral margin of the right lobe of the liver. All tumor markers including CEA, CA 19-9, CA-125 and AFP were negative. She underwent laparoscopic removal of 2.8 cm x 1.2 cm mass with subsequent clinical improvement in symptoms. Pathology showed absence of significant mitotic activity and very low proliferation marker index (Ki-67). Karyotype analysis demonstrated abnormal chromosome 14 with extra material from 12q in the presence of two normal copies of chromosome 12. This t(12;14) karyotype is frequently seen in patients with LPD. Discussion: LPD is characterized by the proliferation of smooth muscle cells causing multiple, recurrent intra-abdominal and pelvic nodules. Clinically and radiographically it can mimic a malignant process with metastases, but generally it demonstrates benign histological features. It is believed that an abnormal response to estrogen and progesterone leads to metaplasia of submesothelial multipotent mesenchymal cells within abdominal connective tissue. In the majority of cases, it affects the omentum majus, mesentery, surface of the small intestine, colon, uterus, ovary or pouch of Douglas causing lower abdominal and/or pelvic pain. This case illustrates a rare presentation of LPD that can easily be misinterpreted as biliary or hepatic pathology. Typically, treatment of LDP is transabdominal hysterectomy and bilateral salpingo-oophorectomy (TAH-BSO); however, there is new supporting evidence that aromatase inhibitors and GnRH agonists may be beneficial in shrinking leiomyomas.Figure 1Figure 2