Juvenile Polyposis Complicated with Protein Losing Gastropathy

Abstract

A male patient with chronic bloody stool was diagnosed as juvenile polyposis at the age of 28. He had thirty to forty colonic polyps and some were removed endoscopically, while gastric polyps were too numerous to intervene. As the polyposis advanced gradually, the patient developed intractable anemia and serious hypoproteinemia. Albumin scintigram revealed protein losing gastropathy due to progressive gastric polyposis. Total gastrectomy was carried out at the age of 34 and the patient has achieved remarkable and sustainable improvement.

A NovelSMAD4Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

“…The reason for this may be general malnutrition due to her short bowel and lack of appetite. However, her low albumin levels seem somewhat resistant to TPN and no other cause can be discerned, suggesting that the patient has protein loosing enteropathy, a known comorbidity to JPS [ 4 ]. This, together with the patient's low IgG, points towards loss of immunoglobulins as well as smaller proteins in the gastrointestinal tract causing the immunodeficiency of the patient.…”

“…SMAD4 mutations have been known to cause JPS complicated with both haemorrhagic hereditary telangiectasia (HHT) [ 3 ] and protein loosing enteropathy (PLE) [ 4 ]. The diagnosis of HHT depends upon fulfilling the Curaçao criteria [ 5 ].…”

Giant Stomach Secondary to Juvenile Polyposis Syndrome

“…1 Since the first case of gastric juvenile polyposis was reported in 1979, 5 only 25 cases have been documented. [2][3][4][5][6][7][8][9][10][11][12][13][14][15] This case is the fourth reported case of JPS causing gastric outlet obstruction. Unlike three of the previous case reports, gastric outlet obstruction resulted in massive dilatation of the stomach and was accompanied by hematemesis requiring multiple blood transfusions and hypoproteinemia.…”

A Case of Juvenile Polyposis Syndrome: Dilemmas in Differential Diagnosis and Management

“…Hamartomatous polyposis syndromes of the GI-tract are a rare entity, which account for less than 1 per cent of the annual incidence of colorectal cancer. 3 Juvenile polyposis syndrome has been classified into three types: juvenile polyposis of infancy, juvenile polyposis coli, and generalized juvenile polyposis; another type, which predominately affects the patient's stomach has been proposed as a subtype of the generalized type. 1 Clinical signs compatible with this syndrome, such as GIbleeding and protein-losing gastropathy, were apparent in our patient.…”