Gastrointestinal: Lymphangioleiomyomatosis with protein-losing enteropathy
Journal
Journal of Gastroenterology and Hepatology (Australia)
Journal Volume
21
Journal Issue
12
Pages
1860
Date Issued
2006
Author(s)
Abstract
A 29-year-old woman was referred for investigation because of diarrhea and peripheral edema. She had a low plasma albumin (22 g/L) without proteinuria or features of cirrhosis. Protein loss from the gastrointestinal tract was documented by measurement of the clearance of alpha-1 antitrypsin from the plasma using a 72 h stool collection. Clearance was markedly elevated (2818 mL/day) when compared with the reference range (<12.5 mL/day). Enteroscopy revealed engorged villi in the third part of the duodenum and biopsies confirmed the presence of lymphangiectasia. A coronal reformatted image of a contrast-enhanced abdominal computed tomography (CT) scan revealed a large cystic tumor in the right retroperitoneum (Fig. 1). After laparoscopic biopsy, chylous fluid leaked from a soft encapsulated tumor (Fig. 2). Laparoscopic biopsies showed a mixture of proliferating lymphovascular and smooth muscle cells that were positive for human melanoma black-45, a specific marker for lymphangioleiomyoma cells. In addition, a CT scan of the chest showed multiple thin-walled cysts in the basal segments of both lungs. There has been some improvement in symptoms with progesterone, diuretics and dietary therapy. Lymphangioleiomyomatosis (sometimes called lymphangiomyomatosis) is a rare disorder characterized by the proliferation of abnormal smooth muscle cells in the lungs and in the lymphatic system of the thorax and retroperitoneum. The disorder is largely restricted to premenopausal women. Presenting features can include progressive dyspnea, spontaneous pneumothorax, chylous pleural effusion and chylous ascites. There is also an association with renal angiomyolipomas and with tuberous sclerosis, perhaps because of a genetic link involving mutations in one of the tuberous sclerosis genes (TSC2). The prognosis of patients with lymphangioleiomyomatosis is variable but some patients progress to respiratory failure and need to be considered for lung transplantation. Other forms of treatment are debated but include progesterone supplements and surgical oophorectomy.
Other Subjects
diuretic agent; progesterone; trypsin inhibitor; angiomyolipoma; article; biopsy; clinical feature; computer assisted tomography; diarrhea; diet therapy; gastrointestinal symptom; human; laparoscopy; lymph vessel; lymphangiectasis; lymphangioleiomyomatosis; ovariectomy; peripheral edema; premenopause; priority journal; protein losing gastroenteropathy; smooth muscle fiber; tuberous sclerosis; adult; case report; differential diagnosis; female; lymphangioleiomyomatosis; protein losing gastroenteropathy; retroperitoneal tumor; Adult; Biopsy; Diagnosis, Differential; Female; Humans; Laparoscopy; Lymphangioleiomyomatosis; Protein-Losing Enteropathies; Retroperitoneal Neoplasms; Tomography, X-Ray Computed
Publisher
Blackwell Publishing
Type
journal article