Chronic Liver Disease - AI, Wilson's, NAFLD

Question 1

What are the causes of chronic liver disease?

Answer 1

Commenest causes are Hep B or C, autoimmune hepatitis, but Wilson's should always be excluded.
Other causes: 
1) Drugs - Nitrofurantoin, NSAIDs
2) IBD
3) Primary sclerosis cholangitis +/- UC
4) Cystic fibrosis

Question 2

Autoimmune hepatitis epidemiology?

Answer 2

• Means age: 7-10 years
• More common in girls
• May occur in isolation or in association with IBD, coeliac or other autoimmune

Question 3

Presentation of autoimmune hepatitis?

Answer 3

- Can present as acute hepatitis, fulminant hepatic failure or chronic liver disease.
Autoimmune features:
1) Lupus erythematous
2) Skin rash
3) Arthritis
4) Nephritis
5) Haemolytic anaemia

Question 4

Diagnosis of autoimmune hepatitis?

Answer 4

1. Hypergammaglobulinaemia (IgG)
   2) Positive autoantibodies
   3) Low serum complement c4

Question 5

Treatment of autoimmunehepatitis?

Answer 5

1) Oral steroids: Prednisolone + immunosuppression e.g. azathioprine

Question 6

What is Wilson disease?

Answer 6

Autosomal recessive disorder of biliary copper excretion with excess copper in liver and CNS.

Question 7

Wilson’s epidemiology?

RF?

Answer 7

Very rarely presents in children< 3 years.

RF: FH

Question 8

Pathophys of Wilson’s?

Answer 8

Genetic defect on chromosome 13 results in reduced synthesis of caeruloplasmin (copper-binding protein) and defective excretion of copper in the bile - leading to systemic copper accumulation e.g. liver, brain, kidney and cornea.

Question 9

Presentation of Wilson’s?

Answer 9

1) Any form of liver disease - acute hepatitis, fulminant hepatitis, cirrhosis, PHTN
2) Neuropsychiatric features (common in 2nd decade) - change in school performance, and mood
3) Extrapyramidal signs - tremor, dysarthria, incoordination
4) Renal tubular dysfunction
5) Haemolytic anaemia
6) Kayser-Fleischer rings (not seen before 7 years) in cornea - copper deposits

Question 10

Diagnosis of Wilson’s?

Answer 10

1) Abnormal LFT’s
2) Low caeruloplasmin and high copper is characteristic
3) Urinary copper excretion is increased
4) Elevated hepatic copper on biopsy or identification of mutation (DIAGNOSTIC)

Question 11

Treatment of Wilson’s?

Answer 11

1) Copper chelating agent: Pencillamine (promotes urinary excretion of copper)
2) Reduce absorption of copper: Zinc
3) Prevent peripheral neuropathy: Pyridoxine (Vit B6)
4) Liver transplant for those in end-stage liver disease or acute liver failure

Question 12

What conditions make up the spectrum of Non-alcoholic fatty liver disease

Answer 12

NAFLD is the single most common cause of chronic liver disease in the developed world. Most affected children are OBESE!!!!

Includes:

1) Steatosis - simple fatty deposition
2) Steatohepatitis (inflammation)
3) Fibrosis
4) Cirrhosis (few children develop this)
5) End-stage liver failure

Question 13

Clinical presentation of non-alcoholic fatty liver disease?

Answer 13

Majority are asymptomatic - some may complain of vague RUQ abdominal pain or lethargy.

Question 14

Diagnosis of NAFLD?

Answer 14

1) Ultrasound - usually accidental finding of echogenic liver
2) Abnormal LFTs - raised transaminases
3) Liver biopsy - marked steatosis with or without inflammation or fibrosis

Question 15

Treatment of NAFLD?

Answer 15

Targeted at weight loss which may lead to liver function tests returning to normal.