Protein-losing enteropathy in a patient with familial adenomatous polyposis and advanced colon cancer

Abstract

A 29-year-old female visited a hospital because of increasingly severe lower leg edema. She was diagnosed as having multiple polyps in the stomach and colon by gastroscopy and sigmoidoscopy as well as multiple liver tumors by abdominal CT. She was referred to our hospital for further examination. Total colonoscopy revealed a type 2 tumor in the transverse colon and more than 200 polyps distributed throughout the colorectum. Biopsies of the tumor and polyps showed histological characteristics of adenocarcinoma and tubulovillous adenoma, respectively. Thus, she was diagnosed as having metastatic colon cancer derived from familial adenomatous polyposis (FAP). Laboratory tests showed a marked hypoalbuminemia of 1.1 g/dl. The fecal alpha-1 anti-trypsin test showed abnormal clearance (62.1 ml/day), and scintigraphy using 99mTc-human serum albumin revealed protein loss in the whole colon. Multiple ligation probe amplification analysis of the APC gene identified a germline duplication of exons 11-13. Direct sequencing of the reverse transcription PCR products of APC mRNA revealed a deletion of 25 base pairs and a tandem duplication of exons 11-13. This case was considered to be protein-losing enteropathy resulting from numerous colonic tubulovillous adenomas and advanced colon cancer in a FAP patient with unusual mutational events in APC.

A case of familial adenomatous polyposis with protein‐losing enteropathy treated by laparoscopic total colorectal resection: A literature review

“…In a previously reported case, colonic polyps were covered with a mucin-like material, suggesting that excessive secretion of mucin-containing proteins from multiple adenomas may be the cause of the protein-losing enteropathy. 6 In the present case, although there is a possibility that the protein leakage was partially caused by colorectal cancer, the fact that the hypoalbuminemia was markedly improved by total colorectal resection suggests that the protein leakage may have been caused by a similar mechanism. In this case, since genetic analysis was not performed, we could not identify the difference in gene expression between FAP associated with proteinlosing enteropathy and other types of FAP.…”

“…Chemotherapy is being given, and albumin has improved after chemotherapy. 6 Protein-losing enteropathy has also been reported to be associated with advanced colorectal cancer. The mechanism of hypoproteinemia with colorectal cancer is thought to be an abnormality in the intestinal mucosal epithelium due to inflammatory changes or an increase F I G U R E 2 Resected specimen and pathological findings.…”

“…However, this was a single case report, and further case accumulation and investigation are needed. 6 In terms of surgical techniques, the reports we searched included several cases that underwent total proctocolectomy for polyposis with protein-losing enteropathy, but it was not mentioned whether laparoscopically or laparotomy were performed. It has been reported that laparoscopic total proctocolectomy can be performed safely, although the operative time is longer than that of open surgery in a meta-analysis.…”

“…The patient had colorectal cancer and distant metastatic lesions, which were not resected. Chemotherapy is being given, and albumin has improved after chemotherapy 6 …”

Ultraviolet A eye irradiation ameliorates colon carcinoma induced by azoxymethane and dextran sodium sulfate through β‐endorphin and methionine‐enkephalin

“…Drinking and smoking are also risk factors. Except the environmental factors, patients with familial adenomatous polyposis or ulcerative colitis often progress to colon carcinoma. Furthermore, a hereditary predisposition has also been reported .…”