Pathology 2 Flashcards
Autosomal Dominant mutation of APC gene on Chromosome 5q. 2-hit hypothesis
Familial adenomatous polyposis
Thousands of polyps arise at a young age; pancolonic
Familial adenomatous polyposis
FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium
Gardner Syndrome
FAP + malignant CNS tumor
Turcot Syndrome
Hereditary nonpolyposis colorectal cancer molecular pathway
Autosomal Dominant mutation of DNA mismatch repair genes (microsatellite instability pathway)
Apple Core Lesion
Colorectal Cancer
Iron deficiency Anemia in Males
Colorectal cancer is of high suspicion
CEA tumor marker
Good for monitoring recurrence not screening for colorectal cancer
Molecular Pathway causing Sporadic colorectal cancer
APC/beta-catenin (chromosomal instability)
Pathway of CRC pathogenesis
normal colon, (loss of APC) colon at risk, (kRAS mutation) adenoma, (loss of p53 of DCC) increases tumorigenesis so carcinoma
Stellate cell
causes fibrosis of the liver
Effects of portal HTN
esophageal varices (hematoemesis), peptic ulcer, melena, splenomegaly, caput medusa, ascites, gastropathy, anorectal varices
Effects of Liver Cell Failure
Hepatic encephalopathy, scleral icterus, fetor hepaticus (musty breath), spider nevi, gynecomastia, jaundice, testicular atrophy, asterixis (hand tremor), bleeds, anemia, ankle edema
Alkaline Phosphatase (ALP)
obstructive hepatobilliary disease, HCC, bone disease
ALT > AST
Viral hepatitis
AST > ALT
Alcohol hepatitis
Amylase
Acute Pancreatitis & Mumps
Ceruloplasmin
decreased in Wilson Dx
gamma -glutamiyl transpeptidase(GGT)
Increased in liver and biliary disease, associated with alcohol
Lipase
Acute Pancreatitis (most specific)
Marker of infection, first to increase when HBV resolves, this goes away. If not it is chronic HBV
HBsAg
Marker is positive when a patient is infectious and can give HBV to another person
HBeAg
Only Ab seen in the window phase of Hep B infection
IgM (HBcAb)
Ab in resolved phase of Hep B infection
IgG, also seen in chronic HBV
IgG if infection resolves, Sign you won the battle or were immunized to HBV
HBsAb
fecal-oral, acq by travelers, Acute hepatitis
Hepatitis A
contaminated food, undercooked seafood. PREGNANCY it is associated with fulminant hepatitis
Hepatitis E
Birth, Sex, IVDA, primarily acute hepatitis
Hepatitis B, Hepatitis C (acute becomes chronic)
Confirms Hepatitis C infection
HCV-RNA test
if RNA decreases the patient is recovering, if the patient ihas same RNA levels, it is chronic disease
Dependent on Hep B infection
Hepatitis D
HBV+HDV occuring at same time
coinfection, less severe
Acquiring HDV with pre-exisiting HepB
Superinfection, very severe
VZV or influenza B that has been treated with aspirin
Reye Syndrome
Symptoms you’ll see with Reye Syndrome
mitochondrial abnormalities, fatty liver, hypoglycemia, vomiting, hepatomegaly, coma
Reversible change with moderate alcohol intake. Macrovascular fatty change that may be reversible with alcohol cessation
Hepatic Steatosis
Mallory Bodies
Intracytoplasmic eosinophilic inclusions
Alcoholic Hepatitis
“hobnail” appearance
Alcoholic Cirrhosis
Sclerosis around central vein (Zone III)
Alcoholic cirrhosis
Cellular ballooning and evental necrosis of liver, associated with obesity
non-alcoholic fatty liver disease
post-TIPS complication
Hepatic encephalopathy
Tx for Hepatic Encephalopathy
Lactulose (increased NH4+ generation), low-protein diet, and rifaximin (kills intestinal bacteria)
Cancer Associated with HepB and C
Hepatocellular carcinoma/hepatoma
Aflatoxin from Aspergillus
HCC
Spread of HCC
hematogenously
Diagnosis of HCC
increase AFP, US or contrast CT
Liver tumor associated with OCP or anabolic steroid use
Hepatic Adenoma
Malig. tumor of endothelial origin; associated with exposure to arsenic, vinyl chloride
Angiosarcoma
Liver infarction secondary to hepatic vein or IVC obstruction
Budd-Chiari Syndrome
Centrilobular congestion and necrosis from hepatic vein or IVC obstruction
Budd-Chiari Syndrome
Alpha-1-antitrypsin deficiency
Liver: misfolded gene aggregating in hepatocyte ER
cirrhosis with PAS (+) globules in liver
Lung: leads to emphysema due to uninhibited elastase, panacinar emphysema
Bilirubin >2.5mg/dL in blood
Jaundice
Immature UDP-glucuronosyltransferase at birth
unconjugated hyperbilirubinermia, jaundice/kernicterus
physiologic neonatal jaundice
Tx of Physiological Neonatal Jaundice
Phototherapy, converts unconjugated bilirubin to water-soluble form
Increased UCB due to mildly decreased UDP-glucuronosyltransferase conjugation activity.
Gilbert Disease
Bilirubin increases with fasting and stress
Gilbert Disease
Absent UDP-glucuronosyltransferase, patients die with in a few years, kernicterus, increase UCB
Crigler-Najjar Syndrome type I
Treatment of Crigler-Najjar Syndrome Type I
Plasmapheresis and phototherapy
if were less severe type II version (just need phenobarbital)
Conjugated Hyperbilirubinemia due to defective liver excretion. GROSSLY BLACK LIVER
Dubin-Johnson Syndrome
Milder case of conjugated hyperbilirubinemia without black liver
Rotor Syndrome
Problem with bilirubin uptake causes hyperbilirubinemia
Gilbert Disease
Problem with bilirubin conjugation cause unconjugated bilirubinemia
Crigler-Najjar
Tx of Wilson Disease
Penicillamine or trientine
Autosomal recessive inheritance on chr13, mut ATP7B
Wilson Disease
decreased ceruloplasmin, cirrhosis, corneal deposits, copper accumulation
Wilson Disease
Basal ganglia degeneration, asterixis, dementia, dyskinesia, dysarthria
Wilson Disease
Kayser-Fleischer Ring
Wilson Disease
Bronze Diabetes
Hematochromatosis
Micronodular cirrhosis, diabetes mellitus, skin pigmentation
Hematochromatosis
C282Y or H63D mutation on HFE gene
Primary hematochromatosis (autosomal recessive)
Prussian Blue Stain
For iron
Tx of hereditary hemochromatosis
repeated phlebotomy, deferasirox, deferoxamine
Complication of hemochromatosis
CHF, testicular atrophy, increase risk of HCC
Cause of secondary hemachromatosis
chronic transfusion, increased ferritin, increased iron, decrease in TIBC
Onion Skin bile duct fibrosis causing beading of intra-and extrahepatic duct
Primary Sclerosing Cholangitis
Hypergamaglobulinermia (IgM)
Primary Sclerosing Cholangitis
~40y/o woman with increase serum mitochondrial antibodies, associated with autoimmune conditions
Primary biliary cirrhosis
lymphocytic infiltrate and granulomas of Biliary
Primary Biliary cirrhosis
Extrahepatic biliary obstruction
Secondary Biliary Cirrhosis
Female, Fat, Fertile, Forty
Gallstones
Black GB stone
radiopaque, hemolysis
Brown GB stone
radiolucent, infection
Neurohormonal activation triggering contraction of GB, forcing a stone into the cystic duct
Biliary colic
Gallstone ileus
Gallstone onstructing ileocecal valve, waxing and waning RUG pain
Diagnosis for gall stone
ultrasound
Cholesterol GB stone
radiolucent, opaque if calcified, assoc with obesity, Crohn, CF, estrogen, rapid wt loss, Native American
Rokitansky-Aschoff sinus formation
GB mucosa dives down into smooth muscle of GB wall. Vague RUQ pain
(+) Murphy Sign
inspiratory arrest on RUQ palpation due to pain (Cholecystitis)
Acute of Chronic inflammatio of GB
Cholecystitis
Calcified GB due to chronic cholecystitis
Porcelain GB, high rates of GB carcinoma
Autodigestion of pancreas by pancreatic enzymes
Acute Pancreatitis
Causes of Acute Pancreatitis
GET SMASHED
gallstones, ethanol, trauma, steroids, mumps, autoimmune dx, scorpion sting, hypercalcemia, hyperTG (>1000mg/dL), ERCP, Drugs (sulfa)
Increased Amylase and Lipase
Acute Pancreatitis
Calcification of pancreas, caused by alcohol abuse and CF
Chronic Pancreatitis
CA-19-9 tumor marker
Pancreatic adenocarcinoma
Trousseau Syndrome
migratory thrombophlebitis, redness and tenderness on palpating extremities associated with Pancreatic adenocarcinoma
Whipple Procedure
remove head and neck of pancreas, duodenum an dGB
helps tx pancreatic adenocarcinoma
Risk Factors for Pancreatic Adenocarcinoma
Tobacco, Chronic pancreatitis, diabetes, >50y/o, jewish or black
OP
Penis