Block 2 Pancreas/Liver/Gall bladder Flashcards
Describe the following for annular pancreas:
What is it?
What is a complication?
Patho:
A malformation of the pancreas where it grows as a ring around the duodenum
Complications:
Duodenal obstruction
Patho:
A malformation of the pancreas where it grows as a ring around the duodenum
Complications:
Duodenal obstruction
Describes which condition?
Annular pancreas
Describe the following for acute pancreatitis:
What is it?
What are the lab findings?
What are the causes?
- #1 vs others
What are the symptoms?
What are the complications?
Patho:
Inflammation with hemorrhaging of the pancreas because of prematurely activated trypsin which activates other pancreatic enzymes resulting in auto/self-digestion of the pancreatic parenchyma
Labs:
Elevated lipase & amylase
Liquefactive hemorrhagic necrosis
Fat necrosis/saponification
Hypercalcemia
Causes:
Main
1) #1 Alcohol & gallstones
Other
1) Trauma
2) Hypercalcemia
3) Hyperlipidemia
4) Scorpion sting/drugs
5) MUMPS
6) Rupture of a posterior duodenal ulcer
Signs:
1) Epigastric pain (rad to back)
2) Nausea/vomiting
3) Periumbilical & flank hemorrhaging
4) Hypercalcemia
Comps:
1) Shock
2) Pancreatic pseudocyst (rupture)
3) Pancreatic abscess
4) DIC & Acute respiratory distress syndrome (ARDS)
Patho:
Inflammation with hemorrhaging of the pancreas because of prematurely activated trypsin which activates other pancreatic enzymes resulting in auto/self-digestion of the pancreatic parenchyma
Labs:
Elevated lipase & amylase
Liquefactive hemorrhagic necrosis
Fat necrosis/saponification
Hypercalcemia
Causes:
Main
1) #1 Alcohol & gallstones
Other
1) Trauma
2) Hypercalcemia
3) Hyperlipidemia
4) Scorpion sting/drugs
5) MUMPS
6) Rupture of a posterior duodenal ulcer
Signs:
1) Epigastric pain (rad to back)
2) Nausea/vomiting
3) Periumbilical & flank hemorrhaging
4) Hypercalcemia
Comps:
1) Shock
2) Pancreatic pseudocyst (rupture)
3) Pancreatic abscess
4) DIC & Acute respiratory distress syndrome (ARDS)
Describes which condition?
Acute pancreatitis
What is a Pancreatic pseudocyst?
- Patho
- Lab findings
- Complication
Patho:
An abdominal mass that’s a complication of acute pancreatitis
Labs:
Elevated serum amylase
Comps:
Rupture can release pancreatic enzymes into the abdominal cavity & cause hemorrhaging
Patho:
An abdominal mass that’s a complication of acute pancreatitis
Labs:
Elevated serum amylase
Comps:
Rupture can release pancreatic enzymes into the abdominal cavity & cause hemorrhaging
Describes which condition?
Pancreatic pseudocyst
What is a pancreatic abscess?
- Patho
- Labs
- Symptoms
Patho:
A mass in the pancreas filled with E.coli
Labs:
Elevated amylase
Signs:
1) Abdominal pain
2) High fever
Patho:
A mass in the pancreas filled with E.coli, a complication of acute pancreatitis
Labs:
Elevated amylase
Signs:
1) Abdominal pain
2) High fever
Describes which condition?
Pancreatic abscess
Describe the following for chronic pancreatitis:
What is it?
What causes it?
- main cause in adults vs children
What are the symptoms?
What are the lab findings?
What are the complications?
Patho:
Fibrosis of the pancreatic parenchyma
Causes:
#1 alcohol (adults)
#1 Cystic fibrosis (children)
Signs:
1) Epigastric abdominal pain (radiating to back)
2) Pancreatic insufficiency (malabsorption, steatorrhea, & fat soluble vitamin deficiency)
Labs/histo:
1) Dystrophic calcification of pancreatic parenchyma (Chain of lakes imaging) from dilated pancreatic ducts
Comps:
1) Secondary diabetes mellitus
2) Higher risk of pancreatic carcinoma
Patho:
Fibrosis of the pancreatic parenchyma
Causes:
#1 alcohol (adults)
#1 Cystic fibrosis (children)
Signs:
1) Epigastric abdominal pain (radiating to back)
2) Pancreatic insufficiency (malabsorption, steatorrhea, & fat soluble vitamin deficiency)
Labs/histo:
1) Dystrophic calcification of pancreatic parenchyma (Chain of lakes imaging) from dilated pancreatic ducts
Comps:
1) Secondary diabetes mellitus
2) Higher risk of pancreatic carcinoma
Describes which condition?
Chronic pancreatitis
Describe the following for a pancreatic carcinoma:
What is it?
What are some risk factors?
What are the symptoms?
What is the treatment?
- the prognosis
Patho:
An adenocarcinoma arising from the pancreatic ducts usually seen in 70yr plus
Risks:
1) Smoking
2) Chronic pancreatitis
Signs:
1) Epigastric abdominal pain
2) Weight loss
3) Obstructive jaundice
4) Pale stools
5) Palpable gallbladder (ass with tumors in the head of the pancreas)
6) Migratory thrombophlebitis (Trousseaus sign)
Rx:
Surgical resection involving en bloc removal of the neck/head of the pancreas, proximal duodenum, & gallbladder (Whipple procedure)
Prog:
Very poor prognosis 1yr survival
Patho:
An adenocarcinoma arising from the pancreatic ducts usually seen in 70yr plus
Risks:
1) Smoking
2) Chronic pancreatitis
Signs:
1) Epigastric abdominal pain
2) Weight loss
3) Obstructive jaundice
4) Pale stools
5) Palpable gallbladder (ass with tumors in the head of the pancreas)
6) Migratory thrombophlebitis (Trousseaus sign)
Rx:
Surgical resection involving en bloc removal of the neck/head of the pancreas, proximal duodenum, & gallbladder (Whipple procedure)
Prog:
Very poor prognosis 1yr survival
Pancreatic carcinoma
Describe the following for biliary atresia:
What is it?
What are the symptoms?
What are the complications?
Patho:
Failure of the biliary tree to form or early destruction of the extrahepatic biliary tree
Signs:
1) Jaundice (progress to cirrhosis)
Comps:
1) Biliary obstruction in the first 2 months of life
Patho:
Failure of the biliary tree to form or early destruction of the extrahepatic biliary tree
Signs:
1) Jaundice (progress to cirrhosis)
Comps:
1) Biliary obstruction in the first 2 months of life
Describes which condition?
Biliary atresia
Describe the following for Cholelithiasis (Gallstones):
What is it?
- What are the subtypes?
What are the causes?
Patho:
Solid round stones in the gallbladder due to precipitation of either cholesterol or bilirubin in the bile
Subtypes:
1) Cholesterol stones
2) Bilirubin stones
Causes:
1) Supersaturation of cholesterol or bilirubin
2) Decreased phospholipids (lethicin) or bile acids
3) Stasis
Patho:
Solid round stones in the gallbladder due to precipitation of either cholesterol or bilirubin in the bile
Subtypes:
1) Cholesterol stones
2) Bilirubin stones
Causes:
1) Supersaturation of cholesterol or bilirubin
2) Decreased phospholipids (lethicin) or bile acids
3) Stasis
Describes which condition?
Cholelithiasis (Gallstones)
Describe the following for cholesterol stones:
What are they?
What are the lab findings?
What are the symptoms?
What are the risk factors?
Patho:
A type of gallstone that are solid yellow round stones that are made up of supersaturated or precipitated cholesterol.
Labs/histo:
1) Radiolucent on imaging
Signs:
1) Biliary colic
2) Acute & chronic cholecystitis
3) Gallstone ileus
4) Gallbladder cancer
Risks:
1) Age (40+yrs)
2) Elevated estrogen (obesity, female, multiple preggos)
3) Clofibrate (lipid catabolism drug)
4) Native American descent
5) Chron’s disease
6) Cirrhosis
Patho:
A type of gallstone that are solid yellow round stones that are made up of supersaturated or precipitated cholesterol.
Labs/histo:
1) Radiolucent on imaging
Signs:
1) Biliary colic
2) Acute & chronic cholecystitis
3) Gallstone ileus
4) Gallbladder cancer
Risks:
1) Age (40+yrs)
2) Elevated estrogen (obesity, female, multiple preggos)
3) Clofibrate (lipid catabolism drug)
4) Native American descent
5) Chron’s disease
6) Cirrhosis
Describes which condition?
Cholesterol stones
Describe the following for Bilirubin stones:
What are they?
What are the lab findings?
What are the symptoms?
Patho:
A type of gallstone that are solid pigmented/dark round stones made up of supersaturated/precipitated bilirubin
Labs:
1) usually, radio opaque on imaging
2) Elevated bilirubin in bile (Extravascular hemolysis)
Signs:
1) Biliary colic
2) Biliary tract infection (E.coli, Ascaris lumbriocoides, & Clonorchis Sinesis)
3) Acute & chronic cholecystitis
4) Gallstone ileus
5) Gallbladder cancer
Patho:
A type of gallstone that are solid pigmented/dark round stones made up of supersaturated/precipitated bilirubin
Labs:
1) usually, radio opaque on imaging
2) Elevated bilirubin in bile (Extravascular hemolysis)
Signs:
1) Biliary colic
2) Biliary tract infection (E.coli, Ascaris lumbriocoides, & Clonorchis Sinesis)
3) Acute & chronic cholecystitis
4) Gallstone ileus
5) Gallbladder cancer
Describes which condition?
Bilirubin stones
A round worm infection that is contracted by the fecal-oral route that infects the biliary tract resulting in a high risk of which complication?
Gallstones due to Ascaris Lumbricoides
The Chinese liver fluke (common in Korea, China, & Vietnam) that infects the biliary tract causing an increased risk of developing which conditions?
Gallstones
Cholangitis
Cholangiocarcinoma
Due to a Clonorchis Sinensis infection
Describe the following for Biliary colic:
What is it?
What are the symptoms?
What are the complications?
Patho:
When a gallstone gets stuck in the cystic duct & the gallbladder has to contract against it
Signs:
1) Waxing & wanning RUQ pain (relieved with stone passing)
Comps:
1) Acute pancreatitis
2) Obstructive jaundice
Patho:
When a gallstone gets stuck in the cystic duct & the gallbladder has to contract against it
Signs:
1) Waxing & wanning RUQ pain (relieved with stone passing)
Comps:
1) Acute pancreatitis
2) Obstructive jaundice
Describes which condition?
Biliary colic
Acute cholecystitis:
What is it?
What are the symptoms?
What are the lab findings?
-Imaging
What is a complication?
Patho:
Acute inflammation of the gallbladder wall, because of an impacted stone in the cystic duct resulting in dilation with pressure ischemia, bacterial overgrowth (E.coli), & inflammation
Signs:
1) RUQ pain (radiating to the right scapula)
2) Fever
3) Nausea/vomiting
4) Murphy sign (sudden pausing during inspiration upon deep palpation of the RUQ due to pain)
Labs:
1) Elevated WBC count
2) Elevated serum alkaline phosphatase (duct damage)
3) Elevated CRP
Imaging:
gallbladder wall thickening and/or edema (double wall sign)
Comps:
1) Risk of rupture in not treated
Patho:
An impacted gallstone in the cystic duct causing gallbladder wall inflammation & thickening (double wall), pressure ischemia, & ecoli overgrowth
Signs:
1) RUQ pain (radiating to the right scapula)
2) Fever/Nausea/vomiting
5) Murphy sign
Labs:
1) Elevated WBC count
2) Elevated serum alkaline phosphatase
3) Elevated CRP
Comps:
1) Risk of rupture in not treated
Describes which condition?
Acute cholecystitis
Describe the following for Cholelithiasis:
What is it? & What causes it?
What are the lab findings?
- imaging
Patho/causes:
Gallstones in the gallbladder due to bile cholesterol oversaturation, stasis, or impaired bile circulation (precipitation of gallstones)
Normal labs
Imaging:
- Gallstones with a post-acoustic shadow
Patho/causes:
Gallstones in the gallbladder due to bile cholesterol oversaturation, stasis, or impaired bile circulation (precipitation of gallstones)
Normal labs
Imaging:
- Gallstones with a post-acoustic shadow
Describes which condition?
Cholelithiasis
Describe the following for Choledocholithiasis:
What is it?
What are the symptoms?
What are the lab findings?
-images
Patho:
Gallstones in the common bile duct
Signs:
1) RUQ pain
2) Jaundice
Labs:
Elevated total bilirubin
Elevated GGT (glutamyl transpeptidase)
Elevated ALP, AST, & ALT
Imaging:
Dilated common bile duct
Patho:
Gallstones in the common bile duct
Signs:
1) RUQ pain
2) Jaundice
Labs:
Elevated total bilirubin
Elevated GGT (glutamyl transpeptidase)
Elevated ALP, AST, & ALT
Imaging:
Dilated common bile duct
Describes which condition?
Choledocholithiasis
Describe the following for acute/ascending cholangitis:
What is it?
What are the symptoms?
What are the complications?
Patho:
Bacterial infection of the bile ducts usually from gram -ve enteric bacteria
Signs:
1) Sepsis (fever/chills)
2) Jaundice
4) Abdominal pain
Comps:
1) Increased risk
Patho:
Bacterial infection of the bile ducts usually from gram -ve enteric bacteria
Signs:
1) Sepsis (fever/chills)
2) Jaundice
4) Abdominal pain
Comps:
1) Increased risk
Describes which condition?
Acute/ascending cholangitis
Describe the following for Chronic cholecystitis:
What is it?
What causes it?
What are the lab findings?
- histology
What are the symptoms?
What are the complications?
Patho:
Chronic inflammation of the gastric wall
Causes:
From chemical irritation due to long-standing cholelithiasis with/without superimposed bouts of acute cholecystitis
Labs/histo:
Rokitansky-Aschoff sinus (Herniation of the gallbladder mucosa into the muscular wall)
Signs:
1) Vague RUQ pain that’s worse after eating
Comp:
Porcelain gallbladder (it becomes shrunken & hard because of chronic inflammation, fibrosis & dystrophic calcification)
Patho:
Chronic inflammation of the gastric wall
Causes:
From chemical irritation due to long-standing cholelithiasis with/without superimposed bouts of acute cholecystitis
Labs/histo:
Rokitansky-Aschoff sinus (Herniation of the gallbladder mucosa into the muscular wall)
Signs:
1) Vague RUQ pain that’s worse after eating
Comp:
Porcelain gallbladder (it becomes shrunken & hard because of chronic inflammation, fibrosis & dystrophic calcification)
Describes which condition?
Chronic Cholecystitis
Describe the following for Gallstones:
What are they & what causes them?
Patho/cause:
Gallstones enter the small bowel via a fistula that connects the gallbladder & ileum. It can result in small bowel obstruction
Patho/cause:
Gallstones enter the small bowel via a fistula that connects the gallbladder & ileum. It can result in small bowel obstruction
Describes which condition?
Gallstones
Describe the following for Gall bladder carcinoma:
What is it?
What are the risk factors?
What is the classic presentation & prognosis?
Patho:
An adenocarcinoma arising from the glandular epithelium lining the gallbladder wall
Risks:
1) Gallstones (especially with the complication of porcelain gallbladder)
Classical prez:
The sins of cholecystitis typically in elderly women
Prognosis is POOR
Patho:
An adenocarcinoma arising from the glandular epithelium lining the gallbladder wall
Risks:
1) Gallstones (especially with the complication of porcelain gallbladder)
Classical prez:
The sins of cholecystitis typically in elderly women
Prognosis is POOR
Describes which condition?
Gall bladder cancer
Describe the following for Metastasis to the liver:
What is it & What are the cancers that most common metastasize to the liver?
More common than primary liver tumors. The most common types of cancer that metastasized to the liver include
- Colon
- Breast
- Lung
- Pancreas
They result in multiple nodules on the liver & it can be clinically detected as hepatosplenomegaly with a nodular free edge of the liver
More common than primary liver tumors. The most common types of cancer that metastasized to the liver include
- Colon
- Breast
- Lung
- Pancreas
They result in multiple nodules on the liver & it can be clinically detected as hepatosplenomegaly with a nodular free edge of the liver
Describes which condition?
Metastasis to the liver
Describe the following for Reye syndrome:
What is it?
What are the lab findings?
What are the symptoms?
What are the complications?
Patho:
When kids with viral infections are given aspirin get fulminant of liver failure & encephalopathy
(mitochondrial damage causes deficient B-oxidation & micro vesicular changes)
Labs:
Elevated AST/ALT
Increased PT time
Damaged mitochondria of hepatocytes
Hypoglycemia
Hyperammonia
Microvesicular hepatic steatosis
Signs:
1) Hepatomegaly
2) Nausea/vomiting
3) Encephalopathy (increased ICP)
Comps:
Coma & eventual death
Patho:
When kids with viral infections are given aspirin get fulminant of liver failure & encephalopathy
(mitochondrial damage causes deficient B-oxidation & micro vesicular changes)
Labs:
Elevated AST/ALT
Increased PT time
Damaged mitochondria of hepatocytes
Hypoglycemia
Hyperammonia
Microvesicular hepatic steatosis
Signs:
1) Hepatomegaly
2) Nausea/vomiting
3) Encephalopathy (increased ICP)
Comps:
Coma & eventual death
Describes which condition?
Reye syndrome
Describe the following for Hepatic adenoma:
What is it?
- associated with what?
What are the complications?
Patho/ass:
A benign liver tumor that is associated with oral contraceptive use (regresses with cessation)
Comps:
Risk of rupture which can cause intraperitoneal bleeding (especially in preggos because the subcapsular tumor grows when exposed to estrogen)
Patho/ass:
A benign liver tumor that is associated with oral contraceptive use (regresses with cessation)
Comps:
Risk of rupture which can cause intraperitoneal bleeding (especially in preggos because the subcapsular tumor grows when exposed to estrogen)
Describes which condition?
Hepatic adenoma
Describe the following for hepatocellular carcinoma:
What is it?
What are the symptoms?
What are the risk factors?
What are the lab findings?
What are the complications?
Patho:
A malignant liver tumor
Signs:
1) Painful hepatosplenomegaly
2) Ascites
3) Weight loss/anorexia
4) Right upper quadrant tenderness
5) Jaundice
Risks:
1) Chronic hepatitis infection (HCV or HBV)
2) Cirrhosis
- Alcoholic/non-alcoholic fatty liver disease
-Hemochromatosis
- Wilsons disease
-A1AT deficiency
3) Aflatoxins (derived from aspergillus resulting in P52 mutations)
Labs:
Elevated a fetoprotein (tumor marker)
Comps:
Risk of progressing to Budd-Chiari syndrome
(Cirrhosis masks symptoms resulting in late diagnosis & very poor prognosis)
Explain what Budd-Chiari syndrome is?
-Patho
- Symptoms
- complication of which condition?
Liver infarction due to hepatic vein obstruction (i.e thrombosis or compression) resulting in hepatic venous congestion & increased sinusoidal pressure.
Labs/histo:
1) Centrilobular necrosis
2) Nutmeg liver
Signs:
1) Abdominal pain
2) Painful hepatomegaly
3) Ascites
4) Jaundice
5) increased perfusion of portocaval anastomoses (e.g., esophageal varices, or caput medusae)
Complication of:
Hepatocellular carcinoma
Liver infarction due to hepatic vein obstruction (i.e thrombosis or compression) resulting in hepatic venous congestion & increased sinusoidal pressure.
Labs/histo:
1) Centrilobular necrosis
2) Nutmeg liver
Signs:
1) Abdominal pain
2) Painful hepatomegaly
3) Ascites
4) Jaundice
5) increased perfusion of portocaval anastomoses (e.g., esophageal varices, or caput medusae)
Complication of:
Hepatocellular carcinoma
Describes which condition?
Budd-Chiari syndrome
Patho:
A malignant liver tumor
Signs:
1) Painful hepatosplenomegaly
2) Ascites
3) Weight loss/anorexia
4) Right upper quadrant tenderness
5) Jaundice
Risks:
1) Chronic hepatitis infection (HCV or HBV)
2) Cirrhosis
- Alcoholic/non-alcoholic fatty liver disease
-Hemochromatosis
- Wilsons disease
-A1AT deficiency
3) Aflatoxins (derived from aspergillus resulting in P52 mutations)
Labs:
Elevated a fetoprotein (tumor marker)
Comps:
Risk of progressing to Budd-Chiari syndrome
(Cirrhosis masks symptoms resulting in late diagnosis & very poor prognosis)
Describes which condition?
Hepatocellular carcinoma
Describe the following for Wilsons disease:
What is it/What causes it?
What are the symptoms?
What are the lab findings?
What are the complications?
What is the treatment?
Patho/Cause:
An AUTO recessive defect (ATP7B) that presents in childhood. Reducing ATP-mediated hepatocyte copper transport into the bile & less corporation into the ceruloplasmin. The copper builds up in the liver & leaks into serum to deposit in tissues forming free radicals causing tissue damage.
Signs:
1) Cirrhosis
2) Neurological changes
(behavior changes, dementia, chorea, & parkinsonian symptoms)
3) Kayser Fleisher rings in the cornea
4) Hepatosplenomegaly
5) Jaundice
6) Ascites
7) Hepatic encephalopathy
8) Cirrhosis
9) Portal hypertension
Labs:
Elevated copper in the liver & urine
Reduced serum ceruloplasmin
Comps:
1) Risk of hepatocellular carcinoma
Rx:
D-penicillamine
Patho/Cause:
An AUTO recessive defect (ATP7B) that presents in childhood. Reducing ATP-mediated hepatocyte copper transport into the bile & less corporation into the ceruloplasmin. The copper builds up in the liver & leaks into serum to deposit in tissues forming free radicals causing tissue damage.
Signs:
1) Cirrhosis
2) Neurological changes
(behavior changes, dementia, chorea, & parkinsonian symptoms)
3) Kayser Fleisher rings in the cornea
4) Hepatosplenomegaly
5) Jaundice
6) Ascites
7) Hepatic encephalopathy
8) Cirrhosis
9) Portal hypertension
Labs:
Elevated copper in the liver & urine
Reduced serum ceruloplasmin
Comps:
1) Risk of hepatocellular carcinoma
Rx:
D-penicillamine
Describes which condition?
Wilsons disease
Describe the following for Primary Biliary cirrhosis:
What is it/What causes it?
-Associations?
What are the symptoms?
What are the lab findings?
What are the complications?
Patho/causes:
Chronic Autoimmune granulomatous destruction of small-medium sized intrahepatic bile ducts (progressive ductopenia) eventually leading to chronic cholestasis & symptoms of cirrhosis & portal HTN.
Ass:
females around 40yrs old & often associated with autoimmune conditions.
Signs:
1) Obstructive jaundice
2) Pale stool
3) dark urine
4) Hepatomegaly
5) RUQ discomfort
6) Splenomegaly
7) Hyperpigmentation
8) Xanthomas and xanthelasma
9) Pruritis
Labs:
Anti-mitochondrial antibodies
↑ ALP, ↑ GGT, ↑ direct bilirubin & indirect
↑ IgM
hypercholesterolemia
Comps:
Cirrhosis & portal HTN
Osteoporosis
What are the stages of primary biliary cirrhosis
1
2
3
4
Stage I: lymphocytic infiltration of portal areas and periductal granulomas
Stage II: bile duct ductopenia, progressive fibrosis
Stage III: bridging fibrosis
Stage IV: liver cirrhosis
Stage I: lymphocytic infiltration of portal areas and periductal granulomas
Stage II: bile duct ductopenia, progressive fibrosis
Stage III: bridging fibrosis
Stage IV: liver cirrhosis
Are the stages of which condition?
Primary biliary cirrhosis
Patho/causes:
Autoimmune granulomatous destruction of small-medium sized intrahepatic bile ducts (progressive ductopenia) eventually leading to chronic cholestasis & symptoms of cirrhosis & portal HTN.
Ass:
females around 40yrs old & often associated with autoimmune conditions.
Signs:
1) Obstructive jaundice
2) Pale stool
3) dark urine
4) Hepatomegaly
5) RUQ discomfort
6) Splenomegaly
7) Hyperpigmentation
8) Xanthomas and xanthelasma
Labs:
Anti-mitochondrial antibodies
↑ ALP, ↑ GGT, ↑ direct bilirubin
↑ IgM
hypercholesterolemia
Comps:
Cirrhosis & portal HTN
Osteoporosis
Describes which condition?
Primary biliary cirrhosis
What are the differentials used to differentiate Primary biliary cirrhosis & Primary sclerosing cholangitis?
- Antibodies
- Key symptoms
- Complications
PBC:
Labs:
AMA-ME (anti-mitochondrial antibodies)
Signs:
1) Xanthomas/dyslipidemia
2) Pruritis
Comp:
Osteoporosis, cirrhosis, & portal HTN
PSC:
Labs:
P-ANCA +ve
Ass: Ulcerative colitis
Signs: Acute cholangitis
Comp:
Risk of cholangiocarcinoma
Describe the following for Primary Sclerosing cholangitis:
What is it?
- association?
What are the symptoms?
What are the lab findings?
What are the complications?
Patho:
Inflammation & fibrosis of the intrahepatic/extrahepatic bile ducts that is associated with ulcerative colitis
Signs:
1) Obstructive jaundice
Signs of cholestasis
1) Jaundice/scleral icterus
2) Pale stool
3) Dark urine
4) Fatigue
5) Hepatosplenomegaly
6) Portal hypertension
Labs/histo:
P-ANCA +ve
Periductal fibrosis (onion-skin app)
Dilation of involved regions (beaded app)
Comps:
Cirrhosis & Risk of cholangiocarcinoma
Patho:
Inflammation & fibrosis of the intrahepatic/extrahepatic bile ducts that is associated with ulcerative colitis
Signs:
1) Obstructive jaundice
Signs of cholestasis
1) Jaundice/scleral icterus
2) Pale stool
3) Dark urine
4) Fatigue
5) Hepatosplenomegaly
6) Portal hypertension
Labs/histo:
P-ANCA +ve
Periductal fibrosis (onion-skin app)
Dilation of involved regions (beaded app)
Comps:
Cirrhosis & Risk of cholangiocarcinoma
Describes which condition?
Primary sclerosing Cholangitis
Describe the following for Hemochromatosis:
What is it?
What are the causes?
-primary vs secondary
What are the symptoms?
What are the lab findings?
What are the complications?
What is the treatment?
Patho/causes:
An accumulation of iron in the body resulting in tissue deposits (hemosiderosis) & organ damage (hemochromatosis) due to free radicals production from the iron
Causes:
1) AUTO recessive defect in iron absorption via mutations in HFE gene (282Y) (primary)
2) A complication of chronic transfusions (secondary)
Signs:
1) Triad (cirrhosis, secondary diabetes mellitus, & bronze skin)
2) Dilated cardiomyopathy
3) Arrythmias
4) Gonadal dysfunction (test atrophy)
Labs/histo:
Prussian blue stain (iron)
Lipofuscin in liver (brown wear/tear)
Elevated ferritin
Elevated serum iron
Elevated saturation %
Reduced TIBC
Comps:
Risk of hepatocellular carcinoma
Rx:
Phlebotomy
Patho/causes:
An accumulation of iron in the body resulting in tissue deposits (hemosiderosis) & organ damage (hemochromatosis) due to free radicals production from the iron
Causes:
1) AUTO recessive defect in iron absorption via mutations in HFE gene (282Y) (primary)
2) A complication of chronic transfusions (secondary)
Signs:
1) Triad (cirrhosis, secondary diabetes mellitus, & bronze skin)
2) Dilated cardiomyopathy
3) Arrythmias
4) Gonadal dysfunction (test atrophy)
Labs/histo:
Prussian blue stain (iron)
Lipofuscin in liver (brown wear/tear)
Elevated ferritin
Elevated serum iron
Elevated saturation %
Reduced TIBC
Comps:
Risk of hepatocellular carcinoma
Rx:
Phlebotomy
Describes which condition?
Hemochromatosis
How does primary hemochromatosis result in iron deposition in tissues?
It’s because of an AUTO recessive defect resulting in an HFE mutation causing tyrosine to replace cysteine in the 282Y amino acid inhibiting iron absorption
Describe the following for non-alcoholic fatty liver disease:
What is it?
What is a risk factor?
What are the symptoms?
What are the lab findings?
Patho:
Fatty change, hepatitis, &/or cirrhosis that develops without exposure to alcohol
Risk:
Obesity
Signs:
1) Hepatomegaly
2) Signs of cirrhosis
(jaundice, scleral icterus, spider angioma, gynecomastia, palmar erythema, ascites, asterixis, and encephalopathy)
Labs:
Elevated liver enzymes ALT> AST
Patho:
Fatty change, hepatitis, &/or cirrhosis that develops without exposure to alcohol
Risk:
Obesity
Signs:
1) Hepatomegaly
2) Signs of cirrhosis
(jaundice, scleral icterus, spider angioma, gynecomastia, palmar erythema, ascites, asterixis, and encephalopathy)
Labs:
Elevated liver enzymes ALT> AST
Describes which condition?
Non-alcoholic fatty liver disease
Describe the following for Alcohol-induced fatty liver:
What is it & how is it treated?
What are the symptoms?
What are the lab findings?
-Histology
Patho/Rx:
Copious consumption of alcohol results in excessive fat storage in the liver (only spot to metabolize alcohol). Reversible with alcohol cessation.
Symptoms:
1) Hepatomegaly
Labs/histo:
Heavy/greasy liver
Patho/Rx:
Copious consumption of alcohol results in excessive fat storage in the liver (only spot to metabolize alcohol). Reversible with alcohol cessation.
Symptoms:
1) Hepatomegaly
Labs/histo:
Heavy/greasy liver
Describes which condition?
Alcohol-induced fatty liver
Describe the following for alcohol-induced hepatitis:
What is it?
What are the symptoms?
What are the lab findings?
- histology
What are the complications?
Patho:
Metabolism of alcohol produces a byproduct acetaldehyde which mediates damage to the liver tissue.
Ethanol metabolism leads to excess NADH, promoting triglyceride synthesis, liver inflammation, and cirrhosis.
Signs:
1) Cirrhosis symptoms
(jaundice, scleral icterus, spider angioma, gynecomastia, palmar erythema, ascites, asterixis, and encephalopathy)
2) Swollen hepatocytes
3) Mallory bodies
4) Necrosis
5) Painful hepatosplenomegaly
Labs/histo:
Elevated AST/ALT
Elevated GGT
Elevated CDT
Macrocytic anemia
Patho:
Metabolism of alcohol produces a byproduct acetaldehyde which mediates damage to the liver tissue.
Ethanol metabolism leads to excess NADH, promoting triglyceride synthesis, liver inflammation, and cirrhosis.
Signs:
1) Cirrhosis symptoms
(jaundice, scleral icterus, spider angioma, gynecomastia, palmar erythema, ascites, asterixis, and encephalopathy)
2) Swollen hepatocytes
3) Mallory bodies
4) Necrosis
5) Painful hepatosplenomegaly
Labs/histo:
Elevated AST/ALT
Elevated GGT
Elevated CDT
Macrocytic anemia
Describes which condition
Alcohol-induced hepatitis
Describe the following for Chronic hepatitis:
What is it?
What are the symptoms?
What are the complications?
Patho:
A hepatitis infection due to the Hep virus, EBV, or CMV that lasts longer than 6 months
Signs:
1) Jaundice
2) Dark urine
3) Malaise/fever/nausea
4) Upper abdominal pain
5) Weight loss
Labs:
IgM +ve
Inflammation in the portal tract mostly
↑ GGT
↑ Alkaline phosphatase
↑ Bilirubin
↑ PT/INR
↓ Albumin
↓ Total protein
Comps:
Risk of progressing to cirrhosis
Patho:
A hepatitis infection due to the Hep virus, EBV, or CMV that lasts longer than 6 months.
Signs:
1) Jaundice
2) Dark urine
3) Malaise/fever/nausea
4) Upper abdominal pain
5) Weight loss
Labs:
IgG +ve
Inflammation in the portal tract mostly
↑ GGT
↑ Alkaline phosphatase
↑ Bilirubin
↑ PT/INR
↓ Albumin
↓ Total protein
Comps:
Risk of progressing to cirrhosis
Describes which condition?
Chronic hepatitis
Describe the following for Cirrhosis:
What is it?
What are the lab findings?
What are the symptoms?
Patho:
End-stage liver damage due to fibrosis of the liver which is mediated by TGF-B in stellate cells (underneath the endothelium lining the sinusoids)
Labs/histo:
Bands of fibrosis
Regenerative nodules of hepatocytes
Signs:
1) Ascites
2) Congestive splenomegaly & hypersplenism
3) Portal systemic shunts
(esophageal varices, hemorrhoids, caput medusae)
4) Hepatorenal syndrome (rapid renal failure secondary to cirrhosis)
5) Reduced detoxification
(mental changes, asterixis, coma, gynecomastia, spider angiomata, & palmar erythema)
6) Jaundice
7) Reduced protein synthesis (Hypoalbuminemia/edema & coagulopathy/less clotting factors)
Patho:
End-stage liver damage due to fibrosis of the liver which is mediated by TGF-B in stellate cells (underneath the endothelium lining the sinusoids)
Labs/histo:
Bands of fibrosis
Regenerative nodules of hepatocytes
Signs:
1) Ascites
2) Congestive splenomegaly & hypersplenism
3) Portal systemic shunts
(esophageal varices, hemorrhoids, caput medusae)
4) Hepatorenal syndrome (rapid renal failure secondary to cirrhosis)
5) Reduced detoxification
(mental changes, asterixis, coma, gynecomastia, spider angiomata, & palmar erythema)
6) Jaundice
7) Reduced protein synthesis (Hypoalbuminemia/edema & coagulopathy/less clotting factors)
Describes which condition?
Cirrhosis
Describe the following for acute hepatitis:
What is it?/ what causes it?
What are the symptoms?
What are the lab findings?
- histology
Patho/causes:
Inflammation of the liver due to hep viruses, EBV, or CMV infection lasting less than 6 months
Signs:
1) Jaundice
2) Dark urine
3) Malaise/fever/nausea
Labs/histo:
IgM +ve
Elevated ALT> AST
Elevated CB
Elevated UCB
Inflamed liver lobules with portal cell hepatocyte apoptosis
Patho/causes:
Inflammation of the liver due to hep viruses, EBV, or CMV infection lasting less than 6 months
Signs:
1) Jaundice
2) Dark urine
3) Malaise/fever/nausea
Labs/histo:
IgM +ve
Elevated ALT> AST
Elevated CB
Elevated UCB
Inflamed liver lobules with portal cell hepatocyte apoptosis
Describes which condition?
Acute hepatitis
Describe the following for Hepatitis B infection:
How is it transmitted?
What is the pathogenesis?
What are the symptoms?
Trans:
Parenternal (IV drugs, Birth, Sex)
Patho:
It causes acute hepatitis that can progress to chronic hepatitis in ~20% of cases
Signs:
1) Fever, skin rash, arthralgias, myalgias, fatigue
2) Nausea, anorexia
3) Jaundice
4) Right upper quadrant pain
Trans:
Parenternal (IV drugs, Birth, Sex)
Patho:
It causes acute hepatitis that can progress to chronic hepatitis in ~20% of cases
Signs:
1) Fever, skin rash, arthralgias, myalgias, fatigue
2) Nausea, anorexia
3) Jaundice
4) Right upper quadrant pain
Describes which condition?
HBV infection
What are the serological markers of an acute HBV infection?
HBsAG+ve
HBeAG & HBV DNA +ve
HBcAB IgM+ve
HBsAG+ve
HBeAG & HBV DNA +ve
HBcAB IgM+ve
These serological markers describe which phase of an HBV infection?
Acute HBV infection
What are the serological markers of a window HBV infection?
HBaAB IgM+ve
HBaAB IgM+ve
serological markers describe which phase of an HBV infection?
Window HBV infection
What are the serological markers of a resolved HBV infection?
HBcAB IgG+ve
HBaAB IgG+ve
HBcAB IgG+ve
HBaAB IgG+ve
These serological markers describe which phase of an HBV infection?
Resolved HBV infection
What are the serological markers of a chronic HBV infection?
HBaAG +ve for over 6 months
HBeAG & HBV DNA +ve or -ve
HBcAB IgG +ve
HBaAG +ve for over 6 months
HBeAG & HBV DNA +ve or -ve
HBcAB IgG +ve
These serological markers describe which phase of an HBV infection?
A chronic HBV infection
What are the serological markers of an HBV immunization?
HBsAB IgG+ve
HBsAB IgG+ve is the serological marker for which type of HBV serotype?
Immunized to HBV
Describe the following for Hepatitis C infection:
How is it transmitted?
What is the pathogenesis?
What are the symptoms?
What is the diagnostic test used?
- labs
Trans:
Parenternal (IV drugs & Sex)
Patho:
It causes acute hepatitis that will progress to chronic hepatitis
Signs:
1) Malaise, fever, myalgias, arthralgias
2) RUQ pain
3) Painful hepatomegaly
4) Nausea, vomiting, diarrhea
6) Jaundice
Tests:
HCV-RNA test to confirm infection
Labs:
Low levels of RNA indicate recovery
↑ GGT
↑ Alkaline phosphatase
↑ Bilirubin
↑ PT/INR
↓ Albumin
↓ Total protein
Trans:
Parenternal (IV drugs & Sex)
Patho:
It causes acute hepatitis that will progress to chronic hepatitis
Signs:
1) Malaise, fever, myalgias, arthralgias
2) RUQ pain
3) Painful hepatomegaly
4) Nausea, vomiting, diarrhea
6) Jaundice
Tests:
HCV-RNA test to confirm infection
Labs:
Low levels of RNA indicate recovery
↑ GGT
↑ Alkaline phosphatase
↑ Bilirubin
↑ PT/INR
↓ Albumin
↓ Total protein
Describes which condition?
HCV infection
Describe the following for Hepatitis D:
What is the pathogenesis?
- what are the effects of each infection route
Patho:
Hep D needs Hep B to cause infection, it can happen in two ways:
1) Person with prior HBV gets infected with HDV (B before D) results in a super infection
- risk of liver cirrhosis and Hepatocellular carcinoma
2) HBV & HDV infection at the same time resulting in a co infection (less severe)
- severe acute hepatitis.
Describe the following for Hep A & Hep E infections:
How are they transmitted?
What effect do they both cause?
What are the serological markers?
- active infection vs protection
What is a major complication of Hep E infections in preggos?
Trans:
Both are transmitted via the fecal-oral route (via food/water) usually in poorer areas
Hep A is for trAvelers
Hep E is for sEEfood
Effect:
Both cause acute hepatitis only
Serological markers:
Anti-virus IgM +ve = active infection
Anti-virus IgG +ve = protective
(either post infection or immunization)
Comp of Hep E in preggos:
Progresses to fulminant hepatitis (Liver failure with massive liver necrosis)
Trans:
Both are transmitted via the fecal-oral route (via food/water) usually in poorer areas associated with travelers & shellfish
Effect:
Both cause acute hepatitis only
Serological markers:
Anti-virus IgM +ve = active infection
Anti-virus IgG +ve = protective
(either post infection or immunization)
Comp in preggos:
Progresses to fulminant hepatitis (Liver failure with massive liver necrosis)
Describes which two conditions?
Hep A (trAvelers) & Hep E (sEEfood & prEggo complications)
Describe the following for viral hepatitis:
What is it?
-causes
What are the symptoms?
What are the lab findings?
Patho/cause”
Inflammation that disrupts the hepatocytes & small bile ductulus due to infection from either a hepatitis virus strain, EBV, or CMV
Signs:
1) Jaundice
2) Dark urine
3) Pale stools & pruritis
Labs:
Elevated Conjugated bilirubin
Elevated Alkaline phosphatase
Reduced Urobilinogen (urine)
Patho/cause”
Inflammation that disrupts the hepatocytes & small bile ductulus due to infection from either a hepatitis virus strain, EBV, or CMV
Signs:
1) Jaundice
2) Dark urine
3) Pale stools & pruritis
4) Hypercholesterolemia (xanthomas, steatorrhea, & malabsorption of fat soluble vitamins)
Labs:
Elevated Conjugated bilirubin
Elevated Alkaline phosphatase
Reduced Urobilinogen (urine)
Describes which condition?
Viral hepatitis
Describe the following for gallstone ileus:
What is it?/what causes it?
What are the symptoms?
Patho:
Gallstones enter & block the small bowel (ileus) it’s caused by cholecystitis & the formation of a fistula connecting the gallbladder to the small bowel.
Signs:
1) RUQ pain
(More severe and prolonged (may last > 6 hours) than in cholelithiasis)
2) Nausea, vomiting
3) extrahepatic cholestasis
(e.g., jaundice, pale stool, dark urine, pruritus)
Patho:
Gallstones enter & block the small bowel it’s caused by cholecystitis & the formation of a fistula connecting the gallbladder to the small bowel.
Signs:
1) RUQ pain
(More severe and prolonged (may last > 6 hours) than in cholelithiasis)
2) Nausea, vomiting
3) extrahepatic cholestasis
(e.g., jaundice, pale stool, dark urine, pruritus)
Describes which condition?
Gallstone ileus
Describe the following for Jaundice:
What is it?
What causes it?
What are the key symptoms?
Patho:
Increased concentration of bilirubin (>2.5)
Causes:
Disturbances in bilirubin metabolism
Signs:
1) Scleral icterus (earliest)
2) Yellow skin
Describe the following for extra or intrahepatic vascular hemolysis:
What is it?
What are the symptoms?
What are the lab findings?
What is a complication?
Patho:
Increased destruction of RBCs resulting in very high unconjugated bilirubin levels that overwhelms the liver
Signs:
1) Dark urine (high urobilinogen)
2) Jaundice
3) Scleral icterus
Labs:
Elevated unconjugated bilirubin
Elevated urobilinogen
↓ Hb, Hct, and RBC count
↑ MCV
Comp:
Risk of pigmented bilirubin gallstones
Patho:
Increased destruction of RBCs resulting in very high unconjugated bilirubin levels that overwhelms the liver
Signs:
1) Dark urine (high urobilinogen)
2) Jaundice
3) Scleral icterus
Labs:
Elevated unconjugated bilirubin
Elevated urobilinogen
↓ Hb, Hct, and RBC count
↑ MCV
Comp:
Risk of pigmented bilirubin gallstones
Describes jaundice due to which conditions?
Intra/extravascular hemolysis
Describe the following for physiological jaundice of newborns:
What is it?
What are the symptoms?
What are the lab findings?
What is a complication?
What is the treatment?
Patho:
Newborn livers have low uridine glucuronyl transferase (UGT) levels resulting in low levels of conjugation > 24 hours after birth
NOTE it’s always unconjugated hyperbilirubinemia
Signs:
1) Kernicterus (UCB deposits in the basal ganglia causing neuro defs)
2) Jaundice
3) Scleral icterus
4) Hypotonia
5) Poor feeding
Labs:
Elevated Unconjugated bilirubin
Comp:
Kernicterus (chronic bilirubin encephalopathy) resulting in:
1) Cerebral paresis, hearing impairment, vertical gaze palsy
2) Movement disorder (choreoathetosis)
Rx:
Phototherapy (to make UCB water soluble)
Patho:
Newborn livers have low uridine glucuronyl transferase (UGT) levels resulting in low levels of conjugation > 24 hours after birth
NOTE it’s always unconjugated hyperbilirubinemia
Signs:
1) Kernicterus (UCB deposits in the basal ganglia causing neuro defs)
2) Jaundice
3) Scleral icterus
4) Hypotonia
5) Poor feeding
Labs:
Elevated Unconjugated bilirubin
Comp:
Kernicterus (chronic bilirubin encephalopathy) resulting in:
1) Cerebral paresis, hearing impairment, vertical gaze palsy
2) Movement disorder (choreoathetosis)
Rx:
Phototherapy (to make UCB water soluble)
Describes which condition?
Physiological jaundice of newborns
Describe the following for Gilbert-Syndrome:
What is it/What causes it?
What are the symptoms?
What are the lab findings?
Patho/cause:
An AUTO recessive disorder causing Mutation in the promoter region of UGT1A1 gene resulting in mildly low UGT levels in the liver (reduced conjugation capacity)
Signs:
1) Jaundice during stress
(i.e. severe infection, trauma, exhaustion, Fasting periods, Alcohol)
Labs:
Slightly ↑ unconjugated bilirubin but < 3 mg/dL (indirect)
Patho/cause:
An AUTO recessive disorder causing Mutation in the promoter region of UGT1A1 gene resulting in mildly low UGT levels in the liver (reduced conjugation capacity)
Signs:
1) Jaundice during stress (i.e severe infection)
Labs:
Slightly ↑ unconjugated bilirubin but < 3 mg/dL (indirect)
Describes which condition?
Gilbert syndrome
Another name for unconjugated bilirubin is …
indirect bilirubin
Describe the following for Crigler-Najjar syndrome:
What is it?
- Type 1 vs 2
What causes it?
What are the symptoms?
What are the lab findings?
What is a complication?
What are the treatment options?
Patho:
Absent UGT enzyme in the liver resulting in reduced conjugation capacity
Type 1 = fatal AR
Type 2 = not fata AD
Causes:
autosomal recessive mutation resulting in nearly absent UGT
Signs:
1) persistent neonatal jaundice
2) Kernicterus (dep of UCB in basal ganglia)
Labs:
Elevated unconjugated bilirubin (↑ Indirect bilirubin (20–50 mg/dL))
Comps:
Kernicterus that is usually fatal
Rx:
Phototherapy
Plasmapheresis
Liver transplant
Patho:
Absent UGT enzyme in the liver resulting in reduced conjugation capacity
Type 1 = fatal AR
Type 2 = not fata AD
Causes:
autosomal recessive mutation resulting in nearly absent UGT
Signs:
1) persistent neonatal jaundice
2) Kernicterus (dep of UCB in basal ganglia)
Labs:
Elevated unconjugated bilirubin (↑ Indirect bilirubin (20–50 mg/dL))
Comps:
Kernicterus that is usually fatal
Rx:
Phototherapy
Plasmapheresis
Liver transplant
Describes which condition?
Crigler-Najjar syndrome
Describe the following for Dubin-Johnson syndrome:
What is it?/What causes it?
What are the symptoms?
What are the lab findings?
Patho/causes:
An AUTO recessive disorder that causes a deficiency in the bilirubin canalicular transport protein (aka multidrug resistance-associated protein 2 (MRP2)) resulting in impaired excretion of conjugated bilirubin from the hepatocytes into the bile canaliculi
Signs:
1) Jaundice/icterus
2) Dark urine
3) Liver biopsy: dark, granular pigmentation (due to accumulation of epinephrine metabolites)
Labs:
Elevated conjugated bilirubin (Direct hyperbilirubinemia)
Patho/causes:
An AUTO recessive disorder that causes a deficiency in the bilirubin canalicular transport protein (aka multidrug resistance-associated protein 2 (MRP2)) resulting in impaired excretion of conjugated bilirubin from the hepatocytes into the bile canaliculi
Signs:
1) Jaundice/icterus
2) Dark urine
3) Liver biopsy: dark, granular pigmentation (due to accumulation of epinephrine metabolites)
Labs:
Elevated conjugated bilirubin (Direct hyperbilirubinemia)
Describes which condition?
Dubin-Johnson syndrome
Describe the following for Rotor syndrome:
What is it?
Patho:
Defect in bilirubin canalicular transport protein (aka multidrug resistance-associated protein 2 (MRP2)) resulting in more mildly impaired excretion of conjugated bilirubin from the hepatocytes into the bile canaliculi
Signs:
1) Jaundice/icterus
2) Dark urine
Labs:
Elevated conjugated bilirubin (Direct hyperbilirubinemia)
Patho:
Defect in bilirubin canalicular transport protein (aka multidrug resistance-associated protein 2 (MRP2)) resulting in more mildly impaired excretion of conjugated bilirubin from the hepatocytes into the bile canaliculi
Signs:
1) Jaundice/icterus
2) Dark urine
Labs:
Elevated conjugated bilirubin (Direct hyperbilirubinemia)
Describes which condition?
Roter syndrome
Describe the following for Obstructive jaundice (aka biliary tract obstruction):
What is it?
What are the symptoms?
What are the lab findings?
Patho:
A complication that is associated with conditions like gallstones, pancreatic carcinoma, cholangiocarcinoma, Chinese liver fluke (c. SINENSIS)
Signs:
1) Jaundice/icterus
2) Pale stools & pruritis
3) Hypercholesterolemia
(Xanthomas, steatorrhea, & Malabsorption (fat soluble vitamin deficiency)
Labs:
Elevated conjugated bilirubin
Elevated alkaline phosphate
Reduced urobilinogen (urine)
Patho:
A complication that is associated with conditions like gallstones, pancreatic carcinoma, cholangiocarcinoma, Chinese liver fluke (c. SINENSIS)
Signs:
1) Jaundice/icterus
2) Pale stools & pruritis
3) Hypercholesterolemia
(Xanthomas, steatorrhea, & Malabsorption (fat soluble vitamin deficiency)
Labs:
Elevated conjugated bilirubin
Elevated alkaline phosphate
Reduced urobilinogen (urine)
Describes which condition?
Obstructive jaundice
Describe the normal metabolic pathway for bilirubin metabolism steps 1-5
- RBCs eaten by macrophages
- Protoporphyrin (from heme) is converted to UCB
- Albumin carried UCB to liver where UGT conjugates UCB
- CB is stored in gallbladder & released into the small bowel to aid digestion
- Intestinal flora convert CB to urobilinogen which is oxidized into sterobilin (brown) & urobili (yellow)
Describe the following for MEN 1 mutations:
What is it?
What causes it?
What the effects?
-Main vs other
What are the common lab findings?
Patho:
Mutation of the MEN1 gene (located on chromosome 11) → altered expression of menin protein
Cause:
AUTO dominant mutation
Effects:
1) Pancreatic tumors
2) Parathyroid hyperplasia
3) Pituitary adenoma
4) Gastrinoma
5) Insulinoma
Labs:
Elevated insulin
Elevated C peptide
Reduced Serum glucose (<50)
Patho:
Mutation of the MEN1 gene (located on chromosome 11) → altered expression of menin protein
Cause:
AUTO dominant mutation
Effects:
Main:
1) Primary hyperparathyroidism (parathyroid adenoma)
Other:
1) Pancreatic tumors
2) Parathyroid hyperplasia
3) Pituitary adenoma
4) Gastrinoma
5) Insulinoma
Labs:
Elevated insulin
Elevated C peptide
Reduced Serum glucose (<50)
Describes which condition?
MEN 1 mutations
Describe the following for MEN 2 mutations:
What is it?
What the effects?
- most common vs other
What are the common lab findings?
What is the main treatment?
Patho:
Altered expression of the RET proto-oncogene → elevated tyrosine kinase activity
Effects:
Main:
1) Medullary thyroid carcinoma (A2)
Other:
1) Pheochromocytoma (A2)
2) Parathyroid adenoma (A2)
3) Ganglioneuromas of oral mucosa (B2)
Labs:
Low calcium
Rx. Prophylactic thyroidectomy
MEN 1: 3 “P”s
= Parathyroid, Pancreas, Pituitary gland
MEN 2A: 1 “M”, 2 “P”s =
Medullary thyroid carcinoma, Pheochromocytoma, Parathyroid
MEN 2B: 2 “M”s, 1 “P” =
Medullary thyroid carcinoma, Marfanoid habitus/Multiple neuromas, Pheochromocytoma
Patho:
Altered expression of the RET proto-oncogene → elevated tyrosine kinase activity
Effects:
Main:
1) Medullary thyroid carcinoma
Other:
1) Pheochromocytoma
2) Parathyroid adenoma
3) Ganglioneuromas of oral mucosa
Labs:
Low calcium
Rx. Prophylactic thyroidectomy
Describes which condition
MEN 2 mutations
What do each color stones in cholelithiasis mean:
Black stones
Brown stones
Yellow stones
Black: Hemolysis (bilirubin)
Brown: Infection
Yellow: Cholesterol (fat)
Dystrophic calcification of the gallbladder (porcelain) is associated with what condition?
Adenocarcinoma of the gall bladder
Patient presents with Hypertension & Hypercalcemia, what are the 2 likely conditions & what would be the differentials?
Ret protp oncogene mutations causing either MEN 2A or 2B conditions
Differentials:
MEN 2A
1) Medullary thyroid carcinoma
2) Parathyroid tumor
3) Pheochromocytoma
MEN 2B
1) Mucosal neuromas *
2) Marfanoid Habitus *
3) Pheochromocytoma
4) Medullary thyroid carcinoma
What is Migratory thrombophlebitis (trousseaus sign) indicative of?
Pancreatic adenocarcinoma
(arise from ductal cells that cause a hypercoagulable state & thrombi)
Palpable, enlarged & NON-tender gallbladder with a +ve Courvoisier (obstructed common bile duct) is indicative of which condition?
Carcinoma of the head of the pancreas
Grey turners sign vs Cullen sign
Gray turners sign: ecchymosis (bruising) of the flank
Cullen sign: ecchymosis (bruising) of the umbilicus
Patient has anemia, mild hyperglycemia, & necrotic migratory erythema what is this indicative of?
Glucagonoma (alpha cell pancreatic tumor)
Hepatic angiosarcoma is associated with exposure to which substance?
PVC (factory workers)
What is a tumor marker that is indicative of Hepatocellular carcinoma?
Elevated alpha fetoprotein
Hemochromatosis can progress to which condition?
Hepatocellular carcinoma (Elevated alpha fetoprotein)
What is the most common primary tumor of the liver?
hemangioma (benign tumor that can rupture causing intraperitoneal bleeding)
OCDs are associated with which type of liver cancer?
Hepatocellular adenoma which is a benign subcapsular tumor that can rupture & cause intraperitoneal hemorrhage
Rx resolves with ODP cessation
Segmental dilation (beaded string) of larger bile ducts in the intrahepatic biliary tree causing cholelithiasis, abscesses, & cholangiocarcinoma is indicative of which condition?
Caroli disease
Describe what Caroli disease is?
Segmental dilation (beaded string) of larger bile ducts in the intrahepatic biliary tree causing cholelithiasis, abscesses, & cholangiocarcinoma is indicative of which condition?
What conditions are associated with Caroli disease?
Cholangiocarcinoma & polycystic kidney disease
What conditions are associated with non-alcoholic fatty liver disease? & what is the histological changes?
Obesity
Dyslipidemia
Diabetes mellitus (2)
Histo:
Macrovascular steatosis
Histology describes Bile duct hamartomas made up of small clusters of dilated ducts/cysts within fibrous stroma
These are indicative of what type of complexes?
Von Meyenburg complexes (embryonic bile duct remnants)
What is the most common cause of cirrhosis in children (also emphysema)?
A1AT deficiency the PiZZ varient (worst one) (PiH normal & PiS mild)
Increased risk of Hepatocellular carcinoma
What is hepatic hemangioma?
What are the symptoms?
What are the lab findings?
The most common BENIGN liver tumor influenced by estrogen levels (usually middle aged adults)
Signs:
1) RUQ pain
2) Early satiety
3) N/V
Labs:
The tumor is well demarcated, uniform & homogenous
Cavernous vascular spaces lined with flat endothelial cells
What is hepatocellular adenoma?
What are the symptoms?
What are the lab findings?
What are the complications?
Highest female ratio very associated with oral contraceptives & anabolic steroids
Signs:
1) RUQ pain
2) Early satiety
3) N/V
Labs:
Enlarged hepatocytes with abnormal lobules
Complications: rupture & hemorrhage & risk of transformation into HCC
Highest female ratio very associated with oral contraceptives & anabolic steroids
Signs:
1) RUQ pain
2) Early satiety
3) N/V
Labs:
Enlarged hepatocytes with abnormal lobules
Complications: rupture & hemorrhage & risk of transformation into HCC
Hepatocellular adenoma
The most common BENIGN liver tumor influenced by estrogen levels (usually middle aged adults)
Signs:
1) RUQ pain
2) Early satiety
3) N/V
Labs:
The tumor is well demarcated, uniform & homogenous
Cavernous vascular spaces lined with flat endothelial cells
hepatic hemangioma
