CBL 6 Fatty liver (2)

Question 1

Reversible complications of haemochromatosis?

Answer 1

Question 2

Irreversible complications of haemochromatosis

Answer 2

Question 5

(2) modes of screening for haemochromatosis

Answer 5

• general population: transferrin saturation, ferritin

​*ferritin should also be measured but is not usually abnormal in the early stages of iron accumulation

• testing family members: genetic testing for HFE mutation

Question 6

(2) specific diagnostic tests for haemochromatosis

Answer 6

• molecular genetic testing for the C282Y and H63D mutations
• liver biopsy: Perl’s stain

Question 7

Haemochromatosis

• management
• monitoring

Answer 7

• Venesection is the first-line treatment
• monitoring adequacy of venesection: transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l
• 2nd line (chelating agent) Deferoxamine -> binds to iron so it can be excreted in the urine

Question 8

What may be seen on joint x ray of a person with haemochromatosis?

Answer 8

chondrocalcinosis

Question 9

What’s haemosiderosis?

Answer 9

Process of depositing of extra iron in the organs

Question 10

What happens (pathophysiology) in HFE mutation?

Answer 10

ENterocytes absorb iron from the intestine (from food) but are not good at regulating its release into bloodstream (they release too much)

Question 11

Type I autoimmune hepatitis

• circulating antibodies
• affected population

Answer 11

Question 12

Type II autoimmune hepatitis

• circulating antibodies
• affected population

Answer 12

Question 13

Type III autoimmune hepatitis

• circulating antibodies
• affected population

Answer 13

Question 14

Difference between primary and secondary haemochromatosis

Answer 14

• Primary - genetic mutation (HFE)
• Secondary - acquired (e.g. frequent blodo transfusion)

Question 15

What type of population is autoimmune hepatitis more commonly seen in?

Answer 15

Young females

Question 19

Clinical features of autoimmune hepatitis

Answer 19

• may present with signs of chronic liver disease
• acute hepatitis: fever, jaundice etc (only 25% present in this way)
• amenorrhoea (common)
• ANA/SMA/LKM1 antibodies, raised IgG levels
• liver biopsy: inflammation extending beyond limiting plate ‘piecemeal necrosis’, bridging necrosis

Question 20

Management of autoimmune hepatitis

Answer 20

• steroids, other immunosuppressants e.g. azathioprine
• liver transplantation

Question 21

What genes are associated with autoimmune hepatitis

Answer 21

Chromosome 6

• HLA - DR3
• HLA - DR4

Question 22

Another name for Primary biliary cholangitis (PBC)

Answer 22

aka (old name: Primary Biliary Cirrhosis)

Question 23

Typical population profile of PBC

Answer 23

middle-aged females (female:male ratio of 9:1)

Question 24

Causes of extrahepatic cholestasis

Answer 24

• gallstones,
• pancreatic cancer
• stricture,
• cholangiocarcinoma
• primary sclerosing cholangitis

Question 25

Causes of intrahepatic cholestasis

Answer 25

• Liver cirrhosis
• primary biliary cirrhosis
• malignancy

Question 26

What to do when there is evidence of biliary dilatation on CT or USS?

Answer 26

Urgent referral

Question 27

Pathophysiology of PBC

Answer 27

• not fully understood
• thought to be: an autoimmune condition
• Interlobular bile ducts become damaged by a chronic inflammatory process -> progressive cholestasis -> eventually progress to cirrhosis

Question 28

A classic presentation of PBC

Answer 28

Itching in middle-aged woman

Question 29

Associations of PBC with different diseases

Answer 29

• Sjogren’s syndrome (seen in up to 80% of patients)
• rheumatoid arthritis
• systemic sclerosis
• thyroid disease

Question 30

Diagnosis of PBC

Answer 30

* anti-mitochondrial antibodies (AMA) M2 ​ (present in 98% of patients and are highly specific) * smooth muscle antibodies in 30% of patients * raised serum IgM

Question 31

Management of PBC

Answer 31

* pruritus: ***cholestyramine*** (limits reabsorption of bile acids in GI tract) * fat-soluble vitamin supplementation * ***ursodeoxycholic acid*** * liver transplantation

Question 32

What's the major indication for liver transplant in PBC?

Answer 32

bilirubin \> 100

Question 33

Possible complications of PBC

Answer 33

* cirrhosis * osteomalacia and osteoporosis * significantly increased risk of hepatocellular carcinoma

Question 34

What (2) enzymes are increased in the blood tests for PBC?

Answer 34

**ALP** and **GGT** -\> they are normally found in bile duct cells \*when cell is damaged or dies -\> enzymes released into blood stream

Question 35

What does the investigation for viral hepatitis involve?

Answer 35

Hepatitis serology: - hepatitis A IgM antibodies - hepatitis B surface antigen - hepatitis C antibodies

Question 36

What bloods to do when starting statins?

Answer 36

ALT & AST (re-check after 3 months; if x3 than normal limit -\> stop statins)

Question 37

(2) markers of liver synthetic function

Answer 37

* albumin * PT (clotting)

Question 39

Increased Fib4 - what does it mean?

Answer 39

Poorer prognosis - need to be more pro-active with lifestyle changes

Question 40

Which antibiotic commonly causes liver damage?

Answer 40

***Co-amoxiclav*** \*damage will heal on its own after stopping co-amoxiclav (may take few months)

Question 41

**Hepatocellular carcinoma** - do we do a biopsy? - other options of investigations

Answer 41

* we don't do biopsy if liver is the original ca site - as we may spread it * biopsy possible if metastatic ca on the liver * do imaging and ***alpha -fetoprotein***

Question 42

What tests to do if we suspect hemochromatosis?

Answer 42

- fasting transferrin - HFE gene

Question 43

Diagnostic marker for Primary Sclerosing Cholangitis

Answer 43

***pANCA*** and imaging

Question 44

What to do if a pregnant woman is positive for ***Hep B***?

Answer 44

* refer for specialist assessment within 6 weeks * check HBV DNA ## Footnote \*if high, give anti-viral ***Tenofovir disoproxil*** * When child is born: HBV immunogobulin in 12 h, vaccine in 24h, then 1 month, then 6-12 months) \*90% risk of transmission from positive mum to a child \* increased risk of premature labour (obstetric input + monitoring) \* if infant is immunised -\> safe to breastfeed

Question 45

What infections do we screen for in antenatal/early pregnancy?

Answer 45

* hepatitis * HIV * rubella * syphilis

Question 46

RA drugs that may induce liver damage

Answer 46

- methotrexate - biologics - sulfasalazine

Question 47

Which enzyme is specific for the liver damage?

Answer 47

ALT

Question 48

Which enzyme is used to confirm that ALP increase is due to liver?

Answer 48

Ganna - glutamyltransferase -\> it mirrors ALP \*gammaGT is also raised with: enzyme-inducing drugs, alcohol abuse

Question 49

How much of the raise in ALT/AST do we see in: a) acute hepatitis b) chornic hepatitis

Answer 49

A. Acute - ALT/AST raised in 1000s B. Chronic - ALT/AST raised in 100s

Question 50

Cholestatic (obstructive) picture on blood tests (LFTs)

Answer 50

* ALP raised significantly * ALT/AST raised mildly (AST\>ALT) * bilirubin increased