L14 + 15: Chronic Liver Disease, Jaundice, Cirrhosis and Portal Hypertension Flashcards
List 4 enzymes of the liver that can be investigated in blood tests
- AST
- ALT
- Alk Phosphate
- gGT
Bilirubin is taken up by hepatocytes in the liver and conjugated with what?
Glucuronic Acid
List 2 causes of UNCONJUGATED hyperbilirubinaemia
- increased haemolysis
- inherited conditions (e.g. Gilbert’s syndrome)
List 2 causes of CONJUGATED hyperbilirubinaemia
- obstruction
- hepatocellular injury
What is Gilbert’s Syndrome?
- inherited condition
- causes unconjugated hyperbilirubinaemia
- occurs b/c conjugation of bilirubin and glucuronic acid is impaired
- reduction of UDP-glucuronosyltransferase activity
- often presents as mild jaundice during times of stress
If a patient has mild jaundice that often occurs during times of stress, what inherited disease is the most likely cause?
Gilbert’s Syndrome
What is steatosis? What is steatohepatitis?
Steatosis: fatty liver
Steatohepatitis: fatty liver + inflammation
Is hereditary haemochromatosis AD or AR?
autosomal recessive
What condition is also known as “bronze diabetes”
hereditary haemochromatosis
List the MAIN symptoms of haemochromatosis
- fatigue
- skin pigmentation
- diabetes
- arthralgia
How can hereditary haemochromatosis be diagnosed? (hint: its a lab value)
raised serum ferritin and transferrin saturation levels
What is the treatment for hereditary haemochromatosis?
weekly phlebotomy
What is Wilson’s disease?
- autosomal recessive metabolic disorder in which impaired copper excretion causes copper to accumulate in the body
- a/w ATP7B gene (copper transporting ATPase 2)
- copper overload
What is the treatment for Wilson’s disease?
a chelating agent - Penicillamine
What gene is a/w Wilson’s disease?
ATP7B gene (copper transporting ATPase 2)