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GASTROENTEROLOGY

Tests for AlcoholismTests for Alcoholism

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National Institute on Alcohol Abuse and Alcoholism (NIAAA)

Reports 20% of medical OPD consults are alcohol related and is considered ‘risky’ levels of consumption:Men - 5 or more drinks a day or

15 or more a week Women- 4 or more a day or

8 or more a week

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ETOH: Major health risks

Liver disease Heart Disease Cancers- Liver, Pancreas, Lymphomas, Breast Pancreatitis Women: at greater risk- miscarriages/ fetal

malformations, alcohol syndromes in babies- 40,000 babies a year

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?Assess

CAGE questionnaire- Did you Feel like-

Cut down consumption

Annoyed by others comments

Guilty about drinking

Eye-Opener in the morning

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Lab TestsGGT-(Gamma-glutamyl transpeptidase, GGTP)Higher the level the greater the “insult”-liver diseasecongestive heart failurealcohol consumption and use of drugs including- (NSAIDs), lipid-lowering drugs, antibiotics, histamine blockers, antifungal agents, seizure control medications, antidepressants, and hormones such as testosterone. Oral contraceptives (birth control pills) and clofibrate can decrease GGT levels. Smoking increases levelsHigher in Afro Americans

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Normal Ileum

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Celiac Disease: AKA- Gluten Enteropathy

An autoimmune disease characterized by an inappropriate immune response to dietary proteins found in wheat, rye, and barley

Dietary proteins- gluten and gliadingluten and gliadin (Incidence- 1/133)(Only 3% diagnosed)

Causes symptoms associated with malnutrition and malabsorption. An inherited tendency that is triggered by an environmental,

emotional, or physical event 5 to 15% of close family members also may be affected

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Features of Malabsorption

Abdominal pain and distension Anemia Bleeding tendency Bloody stool Bone and joint pain Changes in dental enamel Diarrhea Fatigue Greasy foul-smelling stools Oral ulceration Weakness Weight loss

Food Allergies

Infertility

Dermatitis- itchy blisters

Lymphomas

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Best tests

anti-tissue transglutaminase antibody (anti-tTG), IgA Anti-Gliadin Antibodies (AGA), IgG and IgA Anti-Endomysial Antibodies (EMA), IgA (Very Specific)

difficult to do test Anti-Reticulin Antibodies (ARA), IgA (60% positive)

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Other Useful Tests CBC (complete blood count) to look for anemia ESR (erythrocyte sedimentation rate) to evaluate inflammation CRP (C-Reactive protein) to evaluate inflammation CMP (comprehensive metabolic panel) to determine electrolyte, protein,

and calcium levels, and to verify the status of the kidney and liver Vitamin D, E, and B12 to measure vitamin deficiencies Stool fat, to help evaluate malabsorption

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What do they mean?

Anti-tTG antibodies, IgA

Total IgAAnti-tTG

antibodies, IgG

Anti-Gliadin antibodies

(AGA), IgGDiagnosis

+ + Presumptive celiac disease

- + - - Symptoms not likely due to celiac disease

- - + + Possible celiac disease, false negative anti-tTG, IgA due to total IgA deficiency

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Cystic Fibrosis (CF)

Caused by mutations in a gene located on chromosome 7. (AR) Production of a protein called cystic fibrosis transmembrane

regulator (CFTR). Caucasians and Ashkenazi Jews have the highest population carrier

rates (about 1 in 20-25). Absent or defective production and function of CFTR leads to

abnormal electrolyte and water movement in and out of the epithelial cells

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CF

interferes with electrolyte and fluid balances sweat is up to five times saltier Chronic cough and sputum production Persistent chest infection Weight loss and malnutrition (failure to thrive) Pancreatitis Chronic diarrhea and foul-smelling, greasy stools Diabetes related to chronic pancreatitis Delayed growth and delayed sexual development at puberty Enlargement or rounding (clubbing) of the fingertips and toes Chronic hepatic disease and biliary cirrhosis Hypoproteinemia and edema Male infertility (obstructive azoospermia)

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CF Tests Sweat Chloride. Stool test for Trypsin/chymotrypsin Fecal fat Complete metabolic panel Basic metabolic panel Amylase Lipase Semen analysis Sputum cultures

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Tests for malnutritionLipids CBC (Complete Blood Count) CMP (Comprehensive Metabolic Panel) Albumin Total protein For nutritional status and deficiencies: Prealbumin (is decreased in malnutrition, rises and falls rapidly, and can be used to detect short-term response to treatment) Iron tests (such as Iron, TIBC, and Ferritin) Vitamin and minerals (such as B12 and Folate, Vitamin D, Vitamin K, Calcium, and Magnesium)

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Inflammatory Bowel Diseases

affect about a million people in USconditions vary in severity from patient to patient and change over timeperiods of active disease may alternate with periods of remission. ESR (erythrocyte sedimentation rate) to detect inflammation CRP (C-reactive protein) to look for inflammation CBC (complete blood count) to check for anemia

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Diarrhea Investigations

Parasites: Giardia lamblia (giardia), Entamoeba histolytica (E. histolytica), and Cryptosporidium parvum (crypto).Viruses: Rotavirus (children) Norwalk, noroviruses (also called Norwalk-like viruses), adenoviruses, calciviruses, cytomegalovirus (CMV), and HIV

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Diarrhea Investigations

Bacteria: Salmonella, often found in raw eggs, raw poultry and in pet reptiles Shigella, from fecally-contaminated food and water Campylobacter, from raw or undercooked poultry Escherichia coli 0157:H7 (E. coli)- SpinachStaphylococcus aureus and species of Yersinia and Vibrio Clostridium difficile toxin

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Diseases associated with Diarrhea

Inflammatory bowel conditions- IBDBowel dysfunction – IBSMalabsorption disorders –cystic fibrosis Stomach or gallbladder surgeryFood intolerance, such as lactose intolerance or celiac disease Chemotherapy or abdominal or gastrointestinal radiation Endocrine diseases- diabetes and thyroid disease Self-induced with laxatives Psychogenic causes such as stress

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Malnutrition Anemia Weight loss, decreased muscle mass, and weakness Dry scaly skin Edema Hair that has lost its pigment Brittle and malformed (spooned) nails Chronic diarrhea Slow wound healing Bone and joint pain Growth retardation (in children) Mental changes such as confusion and irritability Goiter

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?Tests for Malnutrition

Lipids CBC (Complete Blood Count) CMP (Comprehensive Metabolic Panel) Albumin Total protein For nutritional status and deficiencies: Prealbumin (is decreased in malnutrition, rises and falls rapidly, and can be used to detect short-term response to treatment) Iron tests (such as Iron, TIBC, and Ferritin) Vitamin and minerals (such as B12 and Folate, Vitamin D, Vitamin K, Calcium, and Magnesium)

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Metabolic Syndrome 20% of adults (about 47 million) Central/abdominal obesity as measured by waist circumference [Men - Greater than 40 inches (102 cm); Women - Greater than 35 inches (88 cm)] Fasting triglycerides greater than or equal to 150 mg/dL (1.69 mmol/L) HDL cholesterol [Men - Less than 40 mg/dL (1.04 mmol/L); Women - Less

than 50 mg/ dL (1.29 mmol/L)] Blood pressure greater than or equal to 130/85 mm Hg Fasting glucose greater than or equal to 110 mg/dL (6.1 mmol/L)

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Colon Related Tests

Colorectal Cancers- 11% of cancer deaths Colorectal cancer frequently develops without early symptoms. Symptoms that can occur include: Diarrhea, constipation, or other changes in bowel habits lasting 10 days or more Blood in the stool (either bright red or dark in color) Unexplained anemia Abdominal pain and tenderness in the lower abdomen Abdominal discomfort (frequent gas pains, bloating, fullness, and cramps) Intestinal obstruction Weight loss with no known reason Stools narrower than usual Constant tiredness

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Begin colorectal cancer screening when they turn 50 First-degree relative has had colon cancer, for instance, screening should start 10 years prior to the age that relative was diagnosed High fat and meat diets minimal fruit, vegetable, and fiber intake. Lifestyle factors: cigarette smoking, obesity, and a sedentary lifestyle.

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Other risk factors for colon cancer

Personal or family history of colon cancer or polyps ulcerative colitis, and immunodeficiency disorders

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Four common screening tests recommended

TestTest DescriptionDescription RecommendationRecommendation Pros Pros ConsCons

Fecal Occult Fecal Occult Blood TestBlood Test

Test to detect hidden Test to detect hidden blood in stool sampleblood in stool sample

AnnuallyAnnually Inexpensive; Inexpensive; easy to doeasy to do

Misses some cases; Misses some cases; detects blood not detects blood not due to cancerdue to cancer

SigmoidoscopySigmoidoscopy Examination of the Examination of the rectum and lower colon rectum and lower colon with a rigid or flexible with a rigid or flexible lighted instrumentlighted instrument

Every 5 yearsEvery 5 years Simpler and less Simpler and less preparation than preparation than colonoscopycolonoscopy

Misses some casesMisses some cases

Double barium Double barium contrast enemacontrast enema

Series of x-rays of the Series of x-rays of the colon and rectum; patient colon and rectum; patient is given an enema with a is given an enema with a white, chalky solution white, chalky solution that outlines the colon that outlines the colon and rectum on the x-raysand rectum on the x-rays

Every 5 to 10 Every 5 to 10 yearsyears

Does not require Does not require sedationsedation

Same preparation Same preparation needed as for needed as for colonoscopycolonoscopy

ColonoscopyColonoscopy Examination of the Examination of the rectum and entire colon rectum and entire colon with a lighted instrumentwith a lighted instrument

Every 10 yearsEvery 10 years Perhaps most Perhaps most useful testuseful test

Preparation and Preparation and conscious sedation conscious sedation required; most required; most invasiveinvasive

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Pancreatic Cancer 33,730 diagnosed /32,300 mortality 4th leading cause of cancer death No specific test exists Comprehensive metabolic panel CA 19-9 (Cancer Antigen 19-9): a tumor marker for pancreatic cancer; it

may be used to monitor for cancer recurrence but is not useful for detection or diagnosis

CEA (Carcinoembryonic antigen): a tumor marker used as a monitoring tool

Other tests, such as fecal fat, stool trypsin, trypsinogen, amylase, and lipase help evaluate how well the pancreas is functioning and to determine whether pancreatic enzyme supplementation is necessary.

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Other Pancreatic Conditions

PancreatitisPancreatic insufficiency- related to pancreatitis/ cystic fibrosisTests- Fecal fat Trypsin (an enzyme that digests protein)

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Pancreatitis

M>F, Alcohol relatedDrugs such as valproic acid and estrogen Viral infections such as mumps, Epstein-Barr, and hepatitis A and B Hypertriglyceridemia, hyperparathyroidism, or hypercalcemia Cystic fibrosis Reye's syndrome in children Pancreatic cancer Surgery in the pancreas area (such as bile duct surgery) or trauma

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Tests for Pancreatitis

Amylase (responsible for digesting carbohydrates)

2 to 12 hours after the beginning of symptoms and peaks at 12 to 72 hours. It may rise to 5 to 10 times the normal level and will usually return to normal within a week. Lipase (digests fats) increases in the blood within 4 to 8 hours of the beginning of an acute attack and peaks at 24 hours.

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CANCER MARKERS

A PRIMERA PRIMER

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The Pathologies and their tumor markers   BreastBreast CA-15-3; CEA; CYFRA 21-1

Ovary Ovary CEA; CA 125; CA 19-9; AFP; BHCG

Uterine Uterine SCC; CYFRA 21-1; CEA; CA 19-9; CA 125

Prostate Prostate PSA; FPSA and ratio

Testicle Testicle BHCG; AFP

ColorectalColorectal CEA; CA 19-9; CA 125

Pancreas Pancreas CEA, CA 19-9; CA 72-4

Liver Liver AFP; CEA

StomachStomach CA 72-4; CEA; CA 19-9

Esophagus Esophagus CEA; CYFRA 21-1

Thyroid Thyroid CEA; NSE

Lung Lung NSE; CYFRA 21-1; CEA; CA 125; CA 19-9

BladderBladder TPA; CEA; CYFRA 21-1

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Cancer Marker PanelsThe panel for women The panel for men

CEA CEA

CA 15-3 (BREAST CANCER) CA 19-9

CA 19-9 (OVARY/ UTERINE/ COLORECTAL/ PANCREAS/ STOMACH/ LUNG CANCERS)

CA 125

CA 125 CA 72-4

CA 72-4 (STOMACH/ PANCREAS CANCERS) PSA + FPSA with ratio

AFP (OVARY/ TESTTICLE/ LIVER CANCERS) AFP

BHCG (germ cells, ovaries, bladder, pancreas, stomach, lungs and liver)

BHCG

b2M B2M

NSE NSE

CYFRA 21-19 BLADDER CANCER:LUNG CANCER:

CYFRA 21-1

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PROSTATE CANCER

PSA: an inflammation or trauma of the prostate (e.g. in cases of urinary retention, or following rectal examination, cystoscopy, colonoscopy, transurethral biopsy, laser treatment or ergometry) can lead to PSA elevations of varying

Free PSA: in patients receiving therapy, particularly hormone withdrawal therapy, the FPSA/PSA quotient cannot be utilized to differentiate prostate hyperplasia from cancer of the prostate.

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b2M: BETA 2 MICROGLOBULIN

acute lymphblastic leukemia chronic myelogenous leukemia acute myeloid leukemia and multiple other leukemias lymphoma mulitple myeloma prostate cancer ovarian cancer and renal cell carcinoma

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IL6: Interleukin 6 stimulates the growth and differentiation of human B-

cells and is also a growth factor for plasmacytomas elevated in breast cancer renal cell cancer ovarian cancer and multiple myeloma

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Interleukin-2 (IL-2) hormone-like substance released by stimulated T

lymphocytes Used in treatment of metastatic renal cell carcinoma and

metastatic myeloma (MM) Lung cancer marker Autism

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Neuron Specific Enolase (NSE) Elevated in lung cancer; non small cell lung cancer

(NSCLC) and small cell lung cancer (SCLC) It is also been associated with neuroblastomas,

medullary thyroid carcinoma, Wilm’s tumor and pheochromocytoma

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Ferritin

testicular cancer neuroblastoma Burkitt’s lymphoma lung cancer leukemia and larynx cancer

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Human Chorionic Gonadotropin-beta (hCG)

a tumor-associated antigen that is in various types of cancer. Most commonly, hCG beta is elevated, >10 mIU/ml in

gynecological cancers colorectal seminoma testicular bladder liver stomach pancreas lung brain and kidney cancers

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Tumor Marker Carcinoembryonic Antigen (CEA) CEA results to determine the stage and extent of disease and the

outlook in patients with cancer, especially colorectal cancer. CEA is also used as a marker for other forms of cancer-monitoring

patients with cancer of the rectum, lung, breast, liver, pancreas, stomach, and ovary.

CEA test is not used for screening the general population.

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Carcinoembryonic antigen (CEA)

Found in tumors of: uterus lung breast liver ,GI , colorectal, kidney and pancreas , and typically among tobacco users . One of the most useful applications of this marker is as a post surgical

prognostic indicator in the treatment of neoplasms. Any elevation of this marker after conventional treatment of neoplasms has been

correlated with a recurrence of cancer .

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A2m: alpha 2 macroglobulin

Decreasing levels of A2M have been observed in prostate cancer

Prostate Specific antigen can also bind to A2M and this complex can be used for prostate cancer

A2M levels lower than 500 ng/ml could be considered cancerous