Wilson disease is an autosomal recessive disorder caused by ____________ gene mutation
ATP7B
Wilson disease gene mutation leads to impaired ___________ excretion into bile
Copper
Wilson disease results in toxic copper accumulation in what areas?
Liver
Brain
Eyes
Kidneys
Bones
Joints
Function of ATP7B
Incorporates copper into ceruloplasmin
Excretes copper into bile
How is urinary excretion of copper in Wilson disease?
Increased
Diagnosis of Wilson disease
Decreased ceruloplasmin
Increased hepatic copper content - most sensitive
Increased urinary copper excretion - most specific
Kayser-Fleischer rings on slit lamp exam
Green to brown deposits of copper in Descemet membrane in the limbus of the cornea.
Damage to hepatic parenchyma due to consumption of alcohol
Alcohol-associated liver disease
Alcohol-Associated Liver Disease (ALD) manifests histologically in what 3 ways?
Hepatic steatosis
Steatohepatitis
Alcoholic cirrhosis
Microvascular fatty change, may be reversible with alcohol cessation
Hepatic steatosis
steatohepatitis
inflammation of the liver associated with excess fat
steatohepatitis damage is mediated by what?
Acetaldehyde
Histological changes in steatohepatitis
Necrotic hepatocytes with Neutrophilic infiltration
Mallory bodies
How does steatohepatitis present? How are liver enzymes?
Painful hepatomegaly
Elevated liver enzymes (AST>ALT)
Complication of long-term, chronic alcohol induced liver damage
Alcoholic cirrhosis
What may be seen in early alcoholic cirrhosis?
Sclerosis around central vein
Alcoholic cirrhosis leads to ____________ and ____________________
Portal hypertension and end-stage liver disease
Hepatocellular carcinoma is also known as ______________
hepatoma
Malignant tumor of hepatocytes
Hepatocellular carcinoma
Risk factors for Hepatocellular carcinoma
4 findings with Hepatocellular carcinoma
Anorexia
Jaundice
Tender hepatomegaly
Weight loss
What helps confirm diagnosis of Hepatocellular carcinoma?
Unifocal/multifocal mass on ultrasound or contrast CT/MRI
Serum tumor marker - AFP
Gallstones are caused by what 3 things?
Imbalance of cholesterol and/or bilirubin
Reduced bile salts
Gallbladder stasis
Classic 4 risk factors of gallstones
Female
Fat (obesity)
Fertile (multiparity)
Forty (middle-aged)
Most common complication of gallstones
cholecystitis