Her scalp showed signs of alopecia and her skin fine lanugo hair. aged less than 20 years of age is as low as about one per million.1Owing to its rarity in this age group, CRC is CHN1 frequently not considered initially when young patients present with similar symptoms of CRC compared with those in adults.1Multiple clinical series have shown that children and young adults with CRC tend to have poorer prognosis compared with adults, which might be attributable to advanced-stage disease at presentation and a higher incidence of aggressive mucinous histology.23 CRC commonly presents with non-specific gastrointestinal symptoms in conjunction with iron deficiency anaemia (IDA).45Many of these symptoms can mimic eating disorders, which is AZD0364 common in adolescent women. Here we present the case of a 20-year-old woman with previously undiagnosed familial adenomatous polyposis (FAP) and CRC who presented with abdominal discomfort, excess weight loss and chronic IDA. She experienced a significant delay in diagnosis, given a coexisting eating disorder mimicking her symptoms. == Case presentation == A 20-year-old Caucasian woman presented to the emergency department of our hospital reporting symptoms of intermittent nausea and cramping abdominal pain over the preceding 2 weeks and a single bout of non-bloody emesis on the previous day. The patient’s mother also related a distant history of explosive nocturnal diarrhoea. Though the diarrhoea experienced abated, the patient explained a feeling of tenesmus and excessive gas with bowel movements. She denied haematochezia or melena. Four years previously, the patient was diagnosed with IDA for which she inconsistently required iron pills and experienced experienced profound general weakness and a nearly 40 lbs excess weight loss over the past 4 years. She admitted a long history of voluntary food restriction but denied purging or bulimic behaviour. Her menses were regular and without menorrhagia or oligomenorrhoea. Other medical history includes tonsillectomy during child years, gastro-oesophageal reflux disease and vaginal infections. She was not sexually active, nor experienced she ever had a pelvic examination. She denied the use of alcohol, tobacco or illicit substances. Family history was positive for anorexia in her mother, myocardial infarctions in her father and a distant history of colon cancer in her great-grandfather. Apart from her iron tablets, she occasional required Excedrin for headaches. Physical examination of the patient demonstrated a pale and frail woman with no acute distress. She was afebrile, tachycardiac and normotensive. Her body mass index was 16.9 kg/m2. Her scalp showed indicators of alopecia and her skin fine lanugo hair. Bowel sounds were present and her abdomen was soft, non-distended and non-tender. No abdominal masses or lymphadenopathy were palpated. The laboratory test revealed a significant microcytic anaemia with a haemoglobin of 6.6 g/dL AZD0364 and mean corpuscular volume 61 fL, leukocytosis 18 000/L with a left shift, platelets 745 000/L and potassium 3.2 mmol/L and albumin 2.5 g/dL. The iron panel showed significant iron depletion. Folate and B12were within normal limits. Haemoglobin electrophoresis, antigliadin and endomysial antibodies and transvaginal ultrasound were negative. Gastroenterology discussion was obtained but no endoscopy was performed due to lack of overt bleeding. Given her malnutrition and physical indicators of anorexia, nutrition and psychiatry were also consulted. During the hospitalisation, the patient received two models of reddish blood cell transfusion and electrolyte disturbances were corrected. She was stabilised and discharged with instructions to resume oral iron therapy and to follow up with her main care physician and haematology for an outpatient workup of her anaemia. Following discharge, the patient developed severe nausea and vomiting. She saw her main care physician 3 weeks later, with an additional 15 lbs excess weight loss. AZD0364 A digital rectal examination was performed and an irregular mass was palpated. During the examination, the patient collapsed in the office and was returned to the hospital. After being stabilised and aggressively hydrated, the patient underwent colonoscopy the next day, which revealed a myriad of polyps in the rectosigmoid of a variety of sizes, villous appearing changes and possible malignant changes in the sigmoid colon, consistent with familial polyposis. The FAP gene mutation screen confirmed a deletion at the 5 end of exon 15 of the APC gene on chromosome 5. Colorectal surgery was consulted and advocated for total colectomy. The patient was amenable to this, and after a week of outpatient total parenteral nutrition she returned for the procedure. The patient underwent a successful proctocolectomy with ileoanal J-pouch anastomosis and rectal mucosectomy with loop ileostomy. Pathological.