Transcript GASTROENTEROLOGY

GASTROENTEROLOGY
Tests for Alcoholism
1
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
2
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
3
?Assess

CAGE questionnaire- Did you Feel like-
Cut down consumption
 Annoyed by others comments
 Guilty about drinking
 Eye-Opener in the morning

4
Lab Tests
GGT-
(Gamma-glutamyl transpeptidase, GGTP)
Higher
the level the greater the “insult”liver disease
congestive heart failure
alcohol 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 levels
Higher in Afro Americans
5
Normal Ileum
6
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 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
7
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
8
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)
9
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
10
What do they mean?
Anti-tTG
antibodies,
IgA
Total IgA
Anti-tTG
antibodies,
IgG
Anti-Gliadin
antibodies
(AGA), IgG
Diagnosis
+
+
-
+
-
-
Symptoms not likely due to celiac disease
-
-
+
+
Possible celiac disease, false negative anti-tTG, IgA
due to total IgA deficiency
Presumptive celiac disease
11
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
12
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)
13
CF Tests









Sweat Chloride.
Stool test for Trypsin/chymotrypsin
Fecal fat
Complete metabolic panel
Basic metabolic panel
Amylase
Lipase
Semen analysis
Sputum cultures
14
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)
15
Inflammatory Bowel
Diseases
affect
about a million people in US
conditions vary in severity from patient to patient and change over time
periods 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
16
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
17
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)- Spinach
Staphylococcus aureus and species of Yersinia and Vibrio
Clostridium difficile toxin
18
Diseases associated with
Diarrhea
Inflammatory bowel
conditions- IBD
Bowel dysfunction – IBS
Malabsorption disorders –cystic fibrosis
Stomach or gallbladder surgery
Food 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
19
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
20
?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)
21
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)
22
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
23
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.
24
Other risk factors for colon
cancer



Personal or family history of colon cancer or polyps
ulcerative colitis, and
immunodeficiency disorders
25
Four common screening tests
recommended
Test
Description
Recommendation
Pros
Cons
Fecal Occult
Blood Test
Test to detect hidden
blood in stool sample
Annually
Inexpensive;
easy to do
Misses some cases;
detects blood not
due to cancer
Sigmoidoscopy
Examination of the
rectum and lower colon
with a rigid or flexible
lighted instrument
Every 5 years
Simpler and less
preparation than
colonoscopy
Misses some cases
Double barium
contrast enema
Series of x-rays of the
colon and rectum; patient
is given an enema with a
white, chalky solution
that outlines the colon
and rectum on the x-rays
Every 5 to 10
years
Does not require
sedation
Same preparation
needed as for
colonoscopy
Colonoscopy
Examination of the
rectum and entire colon
with a lighted instrument
Every 10 years
Perhaps most
useful test
Preparation and
conscious sedation
required; most
invasive
26
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.
27
Other Pancreatic Conditions
Pancreatitis
Pancreatic
insufficiency- related to pancreatitis/ cystic
fibrosis
TestsFecal fat
Trypsin (an enzyme that digests protein)
28
Pancreatitis
M>F, Alcohol related
Drugs
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
29
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.
30
CANCER MARKERS
A PRIMER
31
The Pathologies and their tumor markers
Breast
CA-15-3; CEA; CYFRA 21-1
Ovary
CEA; CA 125; CA 19-9; AFP; BHCG
Uterine
SCC; CYFRA 21-1; CEA; CA 19-9; CA 125
Prostate
PSA; FPSA and ratio
Testicle
BHCG; AFP
Colorectal
CEA; CA 19-9; CA 125
Pancreas
CEA, CA 19-9; CA 72-4
Liver
AFP; CEA
Stomach
CA 72-4; CEA; CA 19-9
Esophagus
CEA; CYFRA 21-1
Thyroid
CEA; NSE
Lung
NSE; CYFRA 21-1; CEA; CA 125; CA 19-9
Bladder
TPA; CEA; CYFRA 21-1
32
Cancer Marker Panels
The panel for women
The panel for men
CEA
CEA
CA 15-3 (BREAST CANCER)
CA 19-9
CA 19-9 (OVARY/ UTERINE/ COLORECTAL/
CA 125
PANCREAS/ STOMACH/ LUNG CANCERS)
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,
BHCG
stomach, lungs and liver)
b2M
B2M
NSE
NSE
CYFRA 21-19 BLADDER CANCER:
CYFRA 21-1
LUNG CANCER:
33
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.
34
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
35
IL6: Interleukin 6





stimulates the growth and differentiation of human Bcells and is also a growth factor for plasmacytomas
elevated in breast cancer
renal cell cancer
ovarian cancer and
multiple myeloma
36
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
37
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
38
Ferritin






testicular cancer
neuroblastoma
Burkitt’s lymphoma
lung cancer
leukemia and
larynx cancer
39
Human Chorionic Gonadotropinbeta (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
40
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.
41
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 .
42
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
43