Introduction: Gardners syndrome is a variant phenotype of Familial adenomatous polyposis (FAP) due to mutation in chromosome 5q APC tumor suppressor gene with inevitable colon cancer by the age of 35 in up to 95 %. Other Intestinal manifestations include gastric and duodenal polyps which can progress to malignancy. A prophylactic proctocolectomy is practiced against colon cancer in FAP patients, leaving them with a reduced length of intestines. Patients experience significant morbidity and the clinical picture becomes further complicated if further polyps develop in the stomach or small intestine. Here we report a case of FAP with previous proctocolectomy presenting with gastric and duodenal adenomas.
Case Description/Methods: A 36-year-old female with a history of Gardners syndrome was diagnosed at the age of sixteen and underwent proctocolectomy soon thereafter. She undergoes bi-annual colonoscopies for surveillance. She also has a history of bilateral adrenal adenomas, desmoid tumor in the proximal lower extremities bilaterally, and Thyroid cancer – for which she underwent thyroidectomy and radiation. She presented to the emergency department complaining of generalized weakness associated with headache and exertional dyspnea. Conjunctival pallor was noticed. The patients' symptomatic anemia was improved after two units of PRBC transfusion. Endoscopy a week later showed innumerable medium sessile polyps located diffusely in the proximal stomach with antral sparing as well as large sessile polyps in the duodenal bulb and first portion of the duodenum.
Discussion: The incidence of gastric and duodenal polyps in a patient with FAP is 90%. The risk of progression to periampullary carcinoma is 3-12 % in the patients. However, they can also present with malabsorption and iron deficiency anemia. Duodenal polyps can be monitored and classified as proposed by Spigelman which is based on polyps' size and number, histology, and grade of dysplasia. It can be divided into 4 stages based on scoring from 0-12. Patients with duodenal polyps can be managed by endoscopic surveillance every 1-5 years depending on the Spigelman staging. Celecoxib is suggested for stage 3. Endoscopy with EUS and duodenectomy (pancreas sparing or pylorus sparing) is recommended for stage 4. Knowledge about Spigelman classification is required in managing duodenal polyps in patients with FAP. Given the prophylactic proctocolectomy, every effort has to be made to preserve the rest of the intestine in these patients.
