Genetic Liver Disease (Haemachromatosis, Wilson's Disease, A1ATD, Budd-Chiari) Flashcards
(25 cards)
What is primary haemachromatosis?
Genetic iron overload syndrome (increased absorption)
What is secondary haemachromatosis?
Iron overload from diet, transfusion, iron therapy
How is primary haemachromatosis inherited?
Autosomal recessive
What kind of penetrance does primary haemachromatosis have?
Partial - worse in homozygotes and men
Haemachromatosis causes..?
Cirrhosis
Cardiomyopathy
pancreatic failure
Bronzed diabetes
Iron deposits i the liver are eventually deposited in portal connective tissue and stimulate? This will progress to _____ if untreated?
Fibrosis
Cirrhosis
Haemachromatosis predisposes to?
Carcinoma
Also causes diabetes, cardiac failure, and impotence
How do you treat haemachromatosis?
venesection
What is Wilson’s disease?
Autosomal recessive condition causing loss of caeruloplasmin
What is caeruloplasmin?
Copper binding protein
What does Wilson’s disease lead to?
Massive tissue deposition of copper especially in liver and basal ganglia (brain)
How does Wilson’s disease present?
Neuro-choreathetoid movement
Hepatic cirrhosis +/- sub-fulminant liver failure
Kaiser-Fleischer Rings
Wilson’s disease causes?
Chronic hepatitis and neurological deterioration
How do you investigate Wilson’s Disease?
Low serum caeruloplasmin (major copper carrying protein in the body)
How do you treat Wilson’s disease?
Copper chelation drugs
Caeruloplasmin is the major _____ carrying protein in the body
copper
What is alpha-1-antitrypsin deficiency?
Genetic mutation in A1AT genes causing loss of protein function loss
= Excess tryptic activity
What is alpha 1 antitrypsin?
Enzyme inhibitor that protects cells from inflammatory cells especially neutrophil elastase
What is found on histology for A1AT deficiency?
Cytoplasmic globules of protein in liver cells
What are clinical features of A1AT deficiency?
lung emphysema and cirrhosis
Liver deposition of mutant protein
A1AT predisposes to?
COPD
What is Budd-Chiari syndrome?
Protein C or S deficiency causing thrombosis of hepatic veins (thrombotic tendency) and congenital webs
What are clinical features of Budd-Chiari?
Acute jaundice Tender Hepatomegaly Hepatomegaly Chronic ascites
How do you investigate Budd-Chiari?
US visualisation of hepatic veins
