chronic liver conditions

Question 1

what is Primary Sclerosing Cholangitis (PSC)

Answer 1

This is a chronic disease characterised by inflammation and scarring of the intrahepatic and extrahepatic bile ducts.

Chronic inflammation leads to “onion-skin” fibrosis narrowing the ducts.

This can result in strictures, causing a backlog of bile which results in jaundice.

Bile is hepatotoxic and progression of the disease leads to liver cirrhosis.

Question 2

what type of person is PSC classically seen in

Answer 2

It is classically seen in young men and has a strong association with ulcerative colitis.

Question 3

Sx of PSC

Answer 3

Acute obstructive jaundice due to stricture formation

Pruritus, fatigue and RUQ pain

Leads to chronic liver failure

Increased risk of cholangiocarcinoma

Question 4

what are the two only really management options of this condition

Answer 4

Ursodeoxycholic acid slows down progression but does not reverse the damage

Liver transplant is the main treatment, but the condition can re-occur after transplant

Question 5

what is PBC - Primary biliary cholangitis/cirrhosis (PBC)

Answer 5

This is an inflammatory condition which leads to autoimmune destruction of the intrahepatic bile ducts, leading to liver cirrhosis and portal hypertension.

Question 6

how is jaundice seen in PBC

Answer 6

Chronic inflammation leads to granuloma formation, which causes narrowing of the bile ducts resulting in progressive bile stasis. Bile is toxic to hepatocytes and causes degeneration. It then leaks into the systemic circulation resulting in jaundice.

Question 7

what is PBC associated with

Answer 7

AMA autoantibody
middle aged wokne
sjogren syndrome
RA
coealiac disease

Question 8

what are the symtoms of PBC

Answer 8

Starts with non-specific symptoms, e.g., fatigue, itching

Jaundice in severe cases

Leads to liver cirrhosis with increased risk of hepatocellular carcinoma

Question 9

ongoing management for PBC

Answer 9

Ursodeoxycholic acid slows down progression but does not reverse damage

Cholestyramine to reduce itch

Serial imaging and follow-up blood tests to monitor progression to liver failure

Question 10

what is autoimmune hepatitis and who is it seen in

Answer 10

This is an inflammatory disease characterised by autoantibodies against hepatocytes.

It is commonly seen in young females arising after an infection or some drugs (e.g., nitrofurantoin) and seen in three main types:

Question 11

summarise the three types of autoimmune hepatitis

Answer 11

Type 1

This type is seen in adults (usually young women) and children

Associated with raised antismooth muscle antibodies (ASMA) and anti-nuclear antibodies

Type 2

This type only affects children and due to anti-liver/kidney microsomal antibodies (LKM1)

Type 3

This affects middle-aged adults and associated with soluble-liver kidney antigen

Question 12

sx of auto H

Answer 12

Non-specific symptoms (fatigue, jaundice, raised ALT), amenorrhoea in women

Patients can then rapidly show signs of decompensated liver failure, e.g., coagulopathy, jaundice, encephalopathy

Question 13

what is wilsons disease

Answer 13

This is an autosomal recessive condition which occurs due to a mutation in the hepatocyte copper transporter (ATP7B). This mutation increases copper absorption from the small bowel and decreases copper excretion.

As a result, copper is then deposited in places like the liver, eyes, brain and joints.

The condition often develops at an early age (mid-twenties) and leads to both liver and neurological symptoms.

Question 14

sx of wilsons disease

Answer 14

Liver – early onset cirrhosis

CNS – ataxia, asterixis, behavioural changes and psychiatric disturbances

Keyser-Fleisher corneal rings

Blue nails

arhtritis
haemolyissi
cardiac dysfunction

Question 15

what key tests should be done in wilsons disease

Answer 15

Increased urinary excretion of copper

Low serum copper – it is paradoxically low in this disease

Low serum ceruloplasmin – a serum protein made by the liver which carries copper

Question 16

1st line mx of wilsons disease

Answer 16

1st line is penicillamine (chelator of copper)

Question 17

what is hereditary haemochromatosis and what does it cause

Answer 17

This is an autosomal recessive disorder which occurs due to a mutation in the HFE gene, which regulates the transferrin receptor.

It causes increased intestinal iron absorption leading to iron deposition in tissues.

It is more common in European populations and can lead to liver cirrhosis.

Question 18

sx of H haemachromatosis

Answer 18

Inflammatory symptoms, e.g., fatigue, arthritis

Liver cirrhosis with associated symptoms

Other organ involvement, e.g., diabetes (pancreas), bronzing of the skin, dilated cardiomyopathy (heart)

Question 19

key tests in H haemachronmmatosis

Answer 19

Iron studies – raised ferritin, serum iron and transferrin saturation, low transferrin

If ferritin is raised and transferrin is normal, this suggests that there is Fe2+ overload, which can be secondary to alcohol or liver disease

Genetic testing for HFE gene mutations and liver biopsy are diagnostic

Question 20

mx of h haem

Answer 20

Phlebotomy (regular removal of blood) to keep ferritin levels low and iron chelation

Question 21

what is hepatocellular carcinoma

Answer 21

This refers to a malignant proliferation of hepatocytes and it is the most common type of primary liver cancer. It usually occurs in people with chronic liver inflammation, secondary to conditions including hepatitis B/C and alcoholic liver disease.

It can present as a deterioration from compensated to decompensated liver failure.

Question 22

main causes of liver cancer

Answer 22

Hepatitis B is the most common cause worldwide

Chronic liver diseases e.g., hepatitis C, alcohol, PBC, PSC, NAFLD

Alpha-1-antitrypsin deficiency, metabolic syndromes

Question 23

sx of liver cancer

Answer 23

Decompensation of liver failure, e.g., jaundice, ascites, coagulopathy

Weight loss, increased lethargy, loss of appetite, abdominal pain

Presence of a mass in the right upper quadrant