Giant cystic degeneration of a uterine leiomyoma in a patient with autosomal dominant polycystic kidney disease

Abstract

Objective

To report the management of a large uterine leiomyoma with diffuse cystic degeneration in a patient with autosomal dominant polycystic kidney disease (ADPKD).

Design

Case Report.

Setting

Cleveland Clinic Florida, Department of Gynecology, Section of Minimally Invasive Gynecologic surgery, Weston Florida.

Patient(s)

A 52-year old woman with ADPKD with a large abdominal mass, abnormal uterine bleeding and symptomatic anemia. Imaging revealed a giant intramural cystic lesion of the uterus compressing the inferior vena cava.

Intervention(s)

Uterine artery embolization and blood transfusion followed by a computed tomography guided cyst aspiration were performed on admission to alleviate anemia and abdominal pain and distension. Total laparoscopic hysterectomy with bilateral salpingectomy was performed in an outpatient setting.

Main Outcome Measure(s)

Management of large cystic degeneration of leiomyoma.

Results

Normal recovery from definitive surgery. Surgical pathology confirmed a benign, cystically dilated leiomyoma.

Conclusion

This case demonstrates the management of giant intramural cyst lesion of the uterus using a minimally invasive surgical approach, as opposed to emergency surgery via laparotomy.

Capsule

Large uterine leiomyoma with diffuse cystic degeneration in a patient with autosomal dominant polycystic kidney disease, in which step-wise treatments allows successful minimally invasive hysterectomy.

Highlights

• •Cystic degenerating leiomyoma is a possible rare extra-renal manifestation of autosomal dominant polycystic kidney disease
• •Third reported and largest uterine cyst in a patient with autosomal dominant polycystic kidney disease in the literature
• •This case demonstrates successful minimally invasive surgical treatment for a giant degenerating leiomyoma

1. Introduction

Autosomal dominant polycystic kidney disease (ADPKD) is frequently associated with extrarenal manifestations such as hepatic or pancreatic cysts as well as the formation of cerebral aneurysms. The presence of uterine cysts as an extrarenal manifestation of ADPKD is extremely rare and has only been reported in two cases in the English literature [1], [2]. We report a case of a patient with ADPKD and giant cystic degeneration of a uterine leiomyoma, the largest reported thus far.

2. Case Report

A 52-year-old Caucasian woman, diagnosed with ADPKD at age 28, presented to the emergency room with a large abdominal mass, approximately 30 weeks pregnancy size, abnormal uterine bleeding with menorrhagia, as well as symptomatic anemia. The patient reported a history of increasingly heavy menses over the past 2 months filling 9 pads a day. She had a history of one full term pregnancy, which resulted in vaginal delivery. On review of her old records, a 4 cm intramural cyst was described 12 years previously; but due to lack of insurance, the patient declined to have this further evaluated.

On physical examination, a tense, poorly mobile, mass was palpable on her abdomen extending 6 cm above the umbilicus, causing severe abdominal distention and pain. The patient was also experiencing active vaginal bleeding and reported weakness and fatigue.

Ultrasound evaluation of the pelvis revealed a large cystic mass with inability to visualize the uterus or the adnexa and computed tomography revealed a 20.3 cm intramural cystic lesion of the uterus consistent with cystic degeneration of a large intramural leiomyoma (Fig. 1, Fig. 2).

Fig. 1.

Computerized tomography scan shows coronal view of 20 × 13 × 17 cm cystic intramural mass and numerous hepatic cysts.

Fig. 2.

Computed tomography and transverse view of intrauterine cystic degeneration of leiomyoma and numerous renal cysts.

Magnetic resonance imaging (MRI) confirmed the suspected central cystic degeneration of a leiomyoma measuring 19.6 cm leading to mass effect and compression of the inferior vena cava and proximal common iliac veins without thrombosis (Fig 3).

Fig. 3.

MRI sagittal view of complex cystic intramural mass suggesting cystic degeneration of a leiomyoma. Mass effect results in compression of the inferior vena cava and proximal common iliac veins without thrombosis.

Multiple cysts were visualized in the kidneys and the liver consistent with the patient's diagnosis of ADPKD.

The patient's hemoglobin was noted to be 4.6 g/dl and she required blood transfusions to treat symptomatic anemia. Her heavy vaginal bleeding persisted and the patient underwent successful bilateral uterine artery embolization (Fig 4), which significantly slowed down her vaginal bleeding to 2 pads a day. Tumor markers were drawn due to the size of the mass and CA-125 was elevated at 173 U/ml.

Fig. 4.

Angiogram prior to uterine artery embolization shows right uterine artery to be enlarged and tortuous. A large uterine mass is present.

In an effort to alleviate the patient's painful abdominal distention, she underwent CT guided aspiration of 2.5 l fluid from the cyst (Fig 5), which significantly decreased the uterine size and symptoms. The aspirated fluid was clear and serous, negative for malignancy on cytology, and showed no evidence of infection. She was discharged in stable condition and was followed up in our clinic the following week, where endometrial biopsy and a PAP smear were collected and found to be negative for malignancy.

Fig. 5.

Computed tomography guided aspiration of cystic mass.

The patient desired definitive surgical management and underwent an uncomplicated total laparoscopic hysterectomy with bilateral salpingectomy as an outpatient with an uneventful recovery post operatively. Surgical pathology revealed a 1478-g uterus with cystically dilated leiomyoma (Image 1, Image 2) and myometrium with changes secondary to embolization (Image 3) as well as benign fallopian tubes with paratubal serous cysts.

Image 1.

100 × magnification demonstrating cystically dilated leiomyoma.

Image 2.

25 × magnification demonstrating cystically dilated leiomyoma.

Image 3.

200 × magnification demonstrating a cellular area with extensive infarction due to embolization.

3. Discussion

ADPKD is a systemic disorder that primarily affects the kidneys, but often presents with extra-renal manifestations, such as liver and pancreatic involvement. Cystogenesis is understood to be caused by a mutation in one of two genes, which encode the membrane-spanning proteins, polycystin-1 and polycystin-2 (PKD1 and PKD2) [3]. These proteins work together to increase calcium entry uterine cysts as an extra-renal manifestation [1], [2].

Upon review of the patient's records, she had been diagnosed with a 4 × 1 mm intrauterine fluid collection 12 years prior to her presentation. She had been lost to follow-up and it is likely, that this uterine cyst was present for years and gradually grew in size.

In this case, we were able to treat the patient's symptomatic anemia and stabilize the active vaginal bleeding with the help of uterine artery embolization. Though not a treatment for the active disease process, the percutaneous cyst aspiration by interventional radiology of 2.5 l alleviated the patient's abdominal bulk symptoms tremendously by shrinking uterine size and relieved the pressure onto her great vessels, which allowed for postponing of surgical intervention until her hemoglobin was stable and planning intervention electively and in a minimally invasive fashion, as opposed to emergency surgery at time of admission in the face of heavy bleeding with multiple transfusions and an operation requiring a large midline laparotomy.

Ultimately, we were able to achieve a minimally invasive approach to hysterectomy by performing a laparoscopic hysterectomy after CT guided cyst aspiration, whereas without this intervention she would have required a large, midline laparotomy with incision from the pubis to subxiphoid area. Complications related to giant leiomyomas include infection, necrosis, rupture, hemorrhage, deep vein thrombosis and hydronephrosis due to mass effect [5]. The most common misdiagnosis could be cystic adenomyosis, hematometra, uterine sarcoma and adnexal masses.

Although a rare entity, we would like to raise the awareness of uterine cysts being a possible extrarenal manifestation in ADPKD patients. Larger trials need to be conducted to prove a definitive connection between cystically dilated uterine cysts and PKD1 and PKD2 mutations in ADPKD patients. We describe interventions, which avoided a large, midline laparotomy and allowed an outpatient minimally invasive surgical solution.