Increased level of 5 HIAA is seen in which disease?
(C) Carcinoid tumor[?]SPECIFIC MARKERS FOR CARCINOID TUMORSoBiochemical Markers: Often elevated in NETs and can be a surrogate marker of symptoms of hormone excess or tumor growth.oChromogranin A levels are elevated in approximately 80% of patients with GI NETs.-Sensitivity is 75% and specificity 85%-Falsely positive elevated - PPI or H2 receptor antagonist, hepatic or renal failure.oUrine 5-hydroxyindoleacetic acid (5-HIAA), the primary metabolite of serotonin, is elevated in carcinoid syndrome.-Sensitivity of 35% & Specificity of 100%.-Abnormal levels (>5mg/24 hours) of 5-HIAA are diagnostic of carcinoid syndrome.-To avoid false positive results - avoid some diet & medications[?]ACTHoLaboratory Evaluation-Carcinoid: 24 hour urinary 5-HIAA raised in carcinoid tumours of the fore-gut and mid-gut but not generally raised in tumors of the hind-gut.-Gastrinoma: Raised basal serum gastrin, high gastric acid secretion.-Insulinoma: Raised fasting insulin/glucose ratio, proinsulin or C-peptide.[?]Carcinoid Syndrome:oCause: Excess serotonin level when the metabolic pathway to 5-HIAA is bypassed.-With extensive liver metastasis-With 1.... Pulmonary/ovarian carcinoidsoRecurrent diarrhea (70%)oRight sided endocardial fibroelastosis (35%), resulting in tricuspid regurgitation and right heart failure.oDesquamative skin lesions / pellagra / nausea / vomiting / fever / cutaneous flushing .... (5%).oPrognosis: Carcinoid Syndrome has a higher morbidity and mortality than does the tumour itself.oNeuroendocrine cells tumor of intestine especially the appendix. Mostly, asymptomatic. When secrete serotonin result in carcinoid syndrome. Serotonin metabolites (urinary 5-HIAA) used in screening & help in diagnosis along with CT. Primary managed surgically & chemotherapy used in secondary.INCREASED LEVEL OF 5 HIAA IS SEEN IN CARCINOID TUMOR-5 Secreted peptide hormone(s)Pancreatic NETClinical manifestation / syndromeIslet CellAlpha (a)GlucagonGlucagonomaDiabetes, dermatitis, NMEBeta (b)InsulinInsulinomaFasting hypoglycemia, neuroglycopeniaDelta (d)SomatostatinSomatostatinomaSteatorrhea, cholelithiasis, mild diabetesA-DVIP, other WDHA5-HT ACTHMSHCarcinoidCushing SyndromeHyperpigmentationInteracinar cellFPancreatic polypeptide (PP)PomaNon-functional or various syndromeEC5-HTCarcinoidCarcinoid syndrome (facial flushing, secretory diarrhea, wheezing, right-sided heart valve abnormalities)VIP, Vasoactive intestinal peptide; 5-HT, serotonin; ACH, andrenocarticotropin; MSH, melanocyte stimulating hormone; WDHA, watery diarrhea, hypokalemia, achlorhydria; EC, enterochromaffin; Modified from: National cancer institute at the national institutes of health, pancreatic neuroendocrine tumors (islet cell tumors) Treatment (PDQ): Health professional version
Alkaptonuria
Albinism
Carcinoid tumor
Phenylketonuria
Proteins and Amino Acids