Endocrine Abstracts

A 46-year old male patient, living in Giza, father of 4, used to work as a baker. He is an ex-smoker. He has diabetes on insulin for 4 years, not hypertensive.He was diagnosed to have colonic carcinoma upon which surgical intervention was done in the form of right hemicolectomy with splenectomy and cholecystectomy. Postoperative pathology report revealed invasive moderately differentiated adenocarcinoma. He received postoperative chemotherapy, twelve sessions over the past one and half years. During the treatment he developed recurrent attacks of pancreatitis and was discovered to have hyperlipidaemia upon which four sessions of plasmapharesis were done and the patient was discharged on statins and fibrates. One of his brothers has diabetes and cancer colon, the other brother has colonic polyps. His uncle and two of his cousins died from cancer colon. There is positive consanguinity. There is a family history of ischemic heart disease.

Examination: The patient is cachectic, BMI: 19.5 kg/m², Blood Pressure: 110/70. Pulse: 100 BPM regular, Temp: 37.2–37.6 °C, RR: 16/min. Head and neck examination showed wasted masseter & temporalis with prominent zygoma. Fundus examination was normal. Abdominal examination showed mid line scar 25 cm healed by secondary intension, appendectomy scar healed by secondary intension, no organomegaly. Chest, cardiac and neurological examination were free.

Investigations: CBC, kidney and liver functions, serum amylase and lipase were in the normal range. HbA1c: 13.74%, (4–5%), total cholesterol: 870 (200 mg/dl),triglycerides: 9527(150 mg/dl),HDL: 227 (60 mg/dl),LDL: 57 (160 mg/dl). Echocardiography showed grade I diastolic function. Contrast CT abdomen and pelvis showed no focal lesions or dilated IHBRs, normal CT appearance of the pancreas, spleen, aorta, IVC and both kidneys. No areas of abnormal pelvic enhancement or collections. No pathalogical enlarged LNs, no ascites.

Conclusion: Our patient had familial adenomatous polyposis (FAP) which is characterized by the development of hundreds to thousands of colonic adenoma, it usually leads to inevitable colorectal carcinoma in untreated individuals. FAP are caused by germline mutations in Adenomatous Polyposis Coli (APC), which encodes a tumor suppressor that is part of the WNT signaling pathway. The link between germline mutations and APC FAB & hyperlipidemia that it was found experimentally, that mice with mutation of APC gene show decreased adipogenesis but paradoxically elevated serum lipid level. It is caused by downregulated expression of FFA use genes in white adipose tissue (WAT) of old mice.