Cirrhosis Flashcards

1
Q

name the causes of liver cirrhosis

A

Alcohol-related liver disease
Non-alcoholic fatty liver disease (NAFLD)
Hepatitis B
Hepatitis C

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2
Q

name some of the rare causes of liver cirrhosis

A

Autoimmune hepatitis
Primary biliary cirrhosis
Haemochromatosis
Wilsons disease
Alpha-1 antitrypsin deficiency
Cystic fibrosis
Drugs (e.g., amiodarone, methotrexate and sodium valproate

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3
Q

What are some of the examination findings for liver cirrhosis

A

Cachexia (wasting of the body and muscles)
Jaundice caused by raised bilirubin
Hepatomegaly (enlargement of the liver)
Small nodular liver as it becomes more cirrhotic
Splenomegaly due to portal hypertension
Spider naevi (telangiectasia with a central arteriole and small vessels radiating away)
Palmar erythema caused by elevated oestrogen levels
Gynaecomastia and testicular atrophy in males due to endocrine dysfunction
Bruising due to abnormal clotting
Excoriations (scratches on the skin due to itching)
Ascites (fluid in the peritoneal cavity)
Caput medusae (distended paraumbilical veins due to portal hypertension)
Leukonychia (white fingernails) associated with hypoalbuminaemia
Asterixis (“flapping tremor”) in decompensated liver disease

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4
Q

what are some of the non-invasive liver screenings

A

Ultrasound liver (used to diagnose fatty liver)
Hepatitis B and C serology
Autoantibodies (autoimmune hepatitis, primary biliary cirrhosis and primary sclerosing cholangitis)
Immunoglobulins (autoimmune hepatitis and primary biliary cirrhosis)
Caeruloplasmin (Wilsons disease)
Alpha-1 antitrypsin levels (alpha-1 antitrypsin deficiency)
Ferritin and transferrin saturation (hereditary haemochromatosis)

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5
Q

name relevant autoantibodies associated with liver diseases

A

Antinuclear antibodies (ANA)
Smooth muscle antibodies (SMA)
Antimitochondrial antibodies (AMA)
Antibodies to liver kidney microsome type-1 (LKM-1)

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6
Q

liver function tests may be normal in cirrhosis, however in decompensated cirrhosis all the liver markers come deranged. True or false?

A

True

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7
Q

name some finding in the blood tests for cirrhosis

A

Bilirubin
Alanine transaminase (ALT)
Aspartate transferase (AST)
Alkaline phosphatase (ALP)
Low albumin due to reduced synthetic function of the liver
Increased prothrombin time due to reduced synthetic function of the liver (reduced production of clotting factors)
Thrombocytopenia (low platelets) is a common finding and indicates more advanced disease
Hyponatraemia (low sodium) occurs with fluid retention in severe liver disease
Urea and creatinine become deranged in hepatorenal syndrome
Alpha-fetoprotein is a tumour marker for hepatocellular carcinoma

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8
Q

what is the first-line investigation for assessing fibrosis in non-alcoholic fatty liver disease.

A

ELF TEST: 10.51 OR ABOVE- ADVANCED FIBROSIS
UNDER 10.51- UNLIKELY AF (NICE RECOMMNEDS RECHECKING EVERY 3 YEARS IN NAFLD)

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9
Q

ELF Blood tests can be used to investigate fibrosis in patients with other causes of liver diseases. True or False?

A

False. Can only be used to assess fibrosis in NAFLD.

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10
Q

Ultrasound is used to diagnose non-alcoholic fatty liver disease (once other causes are excluded). True or False

A

True

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11
Q

In liver cirrhosis, an ultrasound may show:

A

Nodularity of the surface of the liver
A “corkscrew” appearance to the hepatic arteries with increased flow as they compensate for reduced portal flow
Enlarged portal vein with reduced flow
Ascites
Splenomegaly

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12
Q

Nodularity,
A “corkscrew” appearance
Enlarged portal vein
Ascites
Splenomegaly
may indicate:

A

Liver cirrhosis

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13
Q

what are the Ultrasound findings for hepatocellular carcinoma

A

alpha-fetoprotein

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14
Q

name the investigation used to assess the stiffness of liver using high-frequency sound waves. What does the test show?
what group of patients does this test aim at?

A

Transient Elastography (‘FibroScan’)
It helps determine the degree of fibrosis (scarring) to test for liver cirrhosis. It is used in patients at risk of cirrhosis:

Alcohol-related liver disease
Heavy alcohol drinkers (men drinking more than 50 units or women drinking more than 35 units per week)
Non-alcoholic fatty liver disease and advanced liver fibrosis (score 10.51 or more on the ELF blood test)
Hepatitis C
Chronic hepatitis B

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15
Q

what test can be used to confirm the diagnosis of cirrhosis

A

Liver biopsy

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16
Q

what other investigations are used in liver disease

A

Endoscopy can be used to assess for and treat oesophageal varices when portal hypertension is suspected.

CT and MRI can be used to look for hepatocellular carcinoma, hepatosplenomegaly, abnormal blood vessel changes and ascites.

Liver biopsy can be used to confirm the diagnosis of cirrhosis.

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17
Q

which investigation is to look for hepatocellular carcinoma, hepatosplenomegaly, abnormal blood vessel changes and ascites.

A

CT AND MRI

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18
Q

which investigation is used to assess and treat oesophageal varices when portal hypertension is suspected?

A

Endoscopy.

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19
Q

what Tool is used to monitor patients with compensated cirrhosis and how often is it investigated. what are the criteria ?

A

NICE recommend using the MELD (Model for End-Stage Liver Disease) score every 6 months in patients with compensated cirrhosis. The formula considers the bilirubin, creatinine, INR and sodium and whether they require dialysis, giving an estimated 3-month mortality as a percentage.

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20
Q

what tool is used to assess the severity and prognosis of cirrhosis? Name the factors included.

A

The Child-Pugh scores uses 5 factors to assess the severity of cirrhosis and the prognosis. Each factor is considered and scored 1, 2 or 3. The minimum overall score is 5 (scoring 1 for each factor), and the maximum is 15 (scoring 3 for each factor). You can remember the features with the “ABCDE” mnemonic:

A – Albumin
B – Bilirubin
C – Clotting (INR)
D – Dilation (ascites)
E – Encephalopathy

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21
Q

what are the principles of management for cirrhosis

A

Treating the underlying cause
Monitoring for complications
Managing complications
Liver transplant
Stop drinking alcohol
Lifestyle changes for non-alcohol fatty liver disease
Antiviral drugs for hepatitis C
Immunosuppressants for autoimmune hepatitis

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22
Q

what tools are used to monitor complications of cirrhosis?

A

MELD score every 6 months
Ultrasound and alpha-fetoprotein every 6 months for hepatocellular carcinoma
Endoscopy every 3 years for oesophageal varices

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23
Q

what tool can be used to for compensated cirrhosis?

A

MELD score

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24
Q

when is liver transplant considered for decompensated liver disease

A

A– Ascites
H – Hepatic encephalopathy
O – Oesophageal varices bleeding
Y – Yellow (jaundice)

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25
Q

name some complications and prognosis of cirrhosis. What tools can be used (2)

A

MELD- every 6 months
Child-Pugh score

Malnutrition and muscle wasting
Portal hypertension, oesophageal varices and bleeding varices
Ascites and spontaneous bacterial peritonitis
Hepatorenal syndrome
Hepatic encephalopathy
Hepatocellular carcinoma

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26
Q

How does malnutrition affect cirrhosis?
name the management.

A

Muscle wasting- due to loss of appetite.
protein metabolism is affected.
liver is unable to store glycogen
inadequate ability for maintaining muscle tissue and muscle tissue is broken down for use as fuel.
- regular meals
- high protein and calorie intake
reduced sodium intake to minimise fluid retention
avoiding alcohol

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27
Q

name the veins involved in delivering blood to the liver

A

superior mesenteric and splenic veins (portal veins)

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28
Q

what is portal hypertension

A

liver cirrhosis can increase the resistance of blood flow into the liver and as a result there is increase pressure on the portal system and the back pressure of blood may result in splenomegaly.

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29
Q

back pressure in the portal system can affect which site.

A

where collaterals form between the portal and systemic venous systems. These collaterals can occur at several locations, notably the:

Distal oesophagus (oesophageal varices)
Anterior abdominal wall (caput medusae)

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30
Q

Varices are asymptomatic until they start bleeding. True or false

A

True

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31
Q

what are varices

A

enlarged or dilated blood vessels in the oesophagus connecting the portal and systemic circulations. they form due to poor hypertension as a result of cirrhosis, resistance to portal blood flow and increased portal venous blood flow.

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32
Q

stable oesophagus varices require vasopressins, prohylactic boras-spectrum ABX.
True or false

A

False.
Prophylaxis of bleeding in stable oesophageal varices involves:

Non-selective beta blockers (e.g., propranolol) first-line
Variceal band ligation (if beta blockers are contraindicated)

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33
Q

what are the prophylaxis used for bleeding in stable O.Varices

A

Non-selective beta blockers (e.g., propranolol) first-line
Variceal band ligation (if beta blockers are contraindicated)

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34
Q

name the management for bleeding Oesophageal Varices

A

Immediate senior help
Consider blood transfusion (activate the major haemorrhage protocol)
Treat any coagulopathy (e.g., with fresh frozen plasma)
Vasopressin analogues (e.g., terlipressin or somatostatin) cause vasoconstriction and slow bleeding
Prophylactic broad-spectrum antibiotics (shown to reduce mortality)
Urgent endoscopy with variceal band ligation
Consider intubation and intensive care

Other options to control the bleeding include:
Sengstaken-Blakemore tube (an inflatable tube inserted into the oesophagus to tamponade the bleeding varices)
Transjugular intrahepatic portosystemic shunt (TIPS)

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35
Q

Describe the process of TIPS. what are the indications (2)

A

A wire under x-ray is inserted into the jugular vein down the vena cava and into the liver via the hepatic vein. A bypass is made from the hepatic vein and portal vein so the blood flow directly to relieve the pressure in the portal system.

  • Bleeding oeasophageal Varices
  • Refractory Ascites
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36
Q

Describe the process of ascites in cirrhosis.

A
  • Fluid in the peritoneal cavity. Increased pressure in the portal system causes fluid to leak out of the capillaries in the liver and abdo organs into the peritoneal cavity.
  • The drop in the circulating volume results in a lower blood pressure in the kidneys. RAAS is activated therefore more absorption of fluid in the kidney and sodium retention.
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37
Q

Ascites is exudative in liver diseases. True or false.
Explain

A

False.
Ascites is the leakage of fluid from the capilaries into the peritoneal cavity as a result of increased pressure in portal system. damaged liver means there is inadequate protein synthesis like albumin therefore oncotic pressure decreases, leading to fluid in the abdomen.

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38
Q

Name the management for Ascites (6)

A

Low sodium diet
Aldosterone antagonists (e.g., spironolactone)
Paracentesis (ascitic tap or ascitic drain)
Prophylactic antibiotics (ciprofloxacin or norfloxacin) when there is <15 g/litre of protein in the ascitic fluid
Transjugular intrahepatic portosystemic shunt (TIPS) is considered in refractory ascites
Liver transplantation is considered in refractory ascites

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39
Q

Explain spontaneous Bacterial peritonitis

A

Spontaneous bacterial peritonitis (SBP) occurs in 10-20% of patients with ascites. It has a mortality of 10-20%. It involves an infection developing in the ascitic fluid and peritoneal lining without a clear source of infection (e.g., an ascitic drain or bowel perforation).

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40
Q

Spontaneous bacterial peritonitis can be asymptomatic. what are the presenting features: (5)

A

Fever
Abdominal pain
Deranged bloods (raised WBC, CRP, creatinine or metabolic acidosis)
Ileus (reduced movement in the intestines)
Hypotension

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41
Q

IN spontaneous bacterial peritonitis is the BP low or high

A

low.
The infection can cause systemic inflammatory response where it can lead to vasodilation and increased vascular permeability resulting in decreased blood pressure.
septic shock: overwhelms the body’s ability to regulate BP.
cirrhosis itself can cause vasodilation and reduced systemic vascular resistance leading to hypo.

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42
Q

name two organism associates with Spontaneous Bacterial Peritonitis

A

Escherichia coli
Klebsiella pneumoniae

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43
Q

what is the management for Spontaneous Bacterial Peritonitis

A

Taking a sample of ascitic fluid for culture before giving antibiotics
Intravenous broad-spectrum antibiotics according to local policies (e.g., piperacillin with tazobactam)

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44
Q

Describe Hepatorenal syndrome associated with cirrhosis

A

Impaired kidney function caused by changes in the blood flow to the kidney relating to liver cirrhosis and portal hypertension.
The exact pathophysiology is still being debated. A simplified version is that portal hypertension causes the portal vessels to release vasodilators, which cause significant vasodilation in the splanchnic circulation (the vessels supplying the gastrointestinal organs). Vasodilation leads to reduced blood pressure. The kidneys respond to the reduced pressure by activating the renin-angiotensin-aldosterone system, which leads to vasoconstriction of the renal vessels. Renal vasoconstriction combined with low systemic pressure results in the kidneys being starved of blood and significantly reduced kidney function.

Hepatorenal syndrome has a poor prognosis unless the patient has a liver transplant.

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45
Q

Describe Hepatic Encephalopathy associated with cirrhosis

A

Hepatic encephalopathy is also known as portosystemic encephalopathy. It is thought to be caused by the build-up of neurotoxic substances that affect the brain.
when proteins are broken down by intestinal bacteria it releases ammonia which is absorbed by the intestine.

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46
Q

what are the two reason for ammonia to build up in blood of patients with cirrhosis

A

Firstly, the liver cells’ functional impairment prevents them from metabolising the ammonia into harmless waste products. Secondly, collateral vessels between the portal and systemic circulation mean that the ammonia bypasses the liver and enters the systemic system directly.

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47
Q

Factors that can trigger or worsen hepatic encephalopathy are:

A

Constipation
Dehydration
Electrolyte disturbance
Infection
Gastrointestinal bleeding
High protein diet
Medications (particularly sedative medications)

48
Q

key presentation of hepatic encephalopathy:

A

confusion and reduced consciousness

49
Q

Management for hepatic encephalopathy:

A

Lactulose (aiming for 2-3 soft stools daily)
Antibiotics (e.g., rifaximin) to reduce the number of intestinal bacteria producing ammonia
Nutritional support (nasogastric feeding may be required)
Lactulose works in several ways to reduce ammonia:

Speeds up transit time and reduces constipation (the laxative effect clearing the ammonia before it is absorbed)
Promotes bacterial uptake of ammonia to be used for protein synthesis
Changes the pH of the contents of the intestine to become more acidic, killing ammonia-producing bacteria

Rifaximin is the usual choice of antibiotic as it is poorly absorbed and stays in the gastrointestinal tract. Neomycin and metronidazole are alternatives.

50
Q

what are the stages of NAFLD

A

Non-alcoholic fatty liver disease
Non-alcoholic steatohepatitis (NASH)
Fibrosis
Cirrhosis

51
Q

what type of fat is associated with NAFLD

A

Triglyceride

52
Q

name some risk factors associated with NAFLD

A

Non-alcoholic fatty liver disease shares the same risk factors as cardiovascular disease and diabetes:

Middle age onwards
Obesity
Poor diet and low activity levels
Type 2 diabetes
High cholesterol
High blood pressure
Smoking

53
Q

what type of syndrome is associated with NAFLD and what are the components to its triad

A

Obesity
diabetes
hypertension

54
Q

what is the investigation for NAFLD

A

-Raised ALT if the first indication

55
Q

can ultrasound indicate severity, function of the liver or presence of fibrosis?

A

NO. US can show hepatic steatosis (fatty liver).

56
Q

what is the first line investigation for assessing NAFLD and what are the 3 markers

A

The enhanced liver fibrosis (ELF) blood test is the first-line investigation for assessing fibrosis in non-alcoholic fatty liver disease. It measures three markers (HA, PIIINP and TIMP-1) and uses an algorithm to provide a result that indicates whether they have advanced fibrosis of the liver:

10.51 or above – advanced fibrosis
Under 10.51 – unlikely advanced fibrosis (NICE recommend rechecking every 3 years in NAFLD)

57
Q

other than ELF what other tool can be used for assessing fibrosis in NAFLD (3)

A

NAFLD Fibrosis Score (NFS) is another option for assessing liver fibrosis in NAFLD. It is based on an algorithm of age, BMI, liver enzymes (AST and ALT), platelet count, albumin and diabetes.

Transient elastography (“FibroScan”) can be used to assess the stiffness of the liver using high-frequency sound waves. It helps determine the degree of fibrosis (scarring) to test for liver cirrhosis. It is used where the enhanced liver fibrosis (ELF) test indicates advanced fibrosis.

Liver biopsy may be required to confirm the diagnosis and exclude other causes of liver disease.

TOM TIP: Both the NFS and FIB-4 scores use the AST:ALT ratio to assess the severity of liver fibrosis. The normal ratio is less than 1. A ratio greater than 0.8 in NAFLD suggests advanced fibrosis. An AST:ALT ratio greater than 1.5 (meaning a disproportionately high AST) indicates alcohol-related liver disease rather than NAFLD.

58
Q

what is the gold standard test for NAFLD

A

The diagnosis requires the presence of ultrasound findings of a fatty liver, risk factors and excluding other causes of liver disease with a careful alcohol history and full non-invasive liver screen. Liver biopsy is the gold standard test.

59
Q

Management plan for NAFLD requires antibiotics, MELD score monitoring. True or false?

A

False.
Management involves:

Weight loss
Healthy diet (Mediterranean diet is recommended)
Exercise
Avoid/limit alcohol intake
Stop smoking
Control of diabetes, blood pressure and cholesterol
Refer patients where scoring tests indicate liver fibrosis to a liver specialist
Specialist management may include vitamin E, pioglitazone, bariatric surgery and liver transplantation

60
Q

what are the stages of alcohol-related liver disease.

A
  1. Alcoholic fatty liver (also called hepatic steatosis)

Drinking leads to a build-up of fat in the liver. This process is reversible with abstinence.

  1. Alcoholic hepatitis

Drinking alcohol over a long period causes inflammation in the liver cells. Binge drinking is associated with the same effect. Mild alcoholic hepatitis is usually reversible with permanent abstinence.

  1. Cirrhosis

Cirrhosis is where the functional liver tissue is replaced with scar tissue. It is irreversible. Stopping drinking can prevent further damage. Continued drinking has a very poor prognosis.

61
Q

what is the recommended alcohol intake a week

A

14 units
binge drinking is 6 or more units for women and 8 or more for men in a single session

62
Q

names six complications of alcohol

A

Alcohol-related liver disease
Cirrhosis and its complications (e.g., hepatocellular carcinoma)
Alcohol dependence and withdrawal
Wernicke-Korsakoff syndrome (WKS)
Pancreatitis
Alcoholic cardiomyopathy
Alcoholic myopathy, with proximal muscle wasting and weakness
Increased risk of cardiovascular disease (e.g., stroke or myocardial infarction)
Increased risk of cancer, particularly breast, mouth and throat cancer

63
Q

Name some examination Findings with Excess Alcohol

A

Smelling of alcohol
Slurred speech
Bloodshot eyes
Dilated capillaries on the face (telangiectasia)
Tremor

64
Q

what are some of the blood test findings for alcohol-related liver diseases:
how does it affect the liver, renal system.

A

Raised mean cell volume (MCV)
Raised alanine transaminase (ALT) and aspartate transferase (AST)
AST:ALT ratio above 1.5 particularly suggests alcohol-related liver disease
Raised gamma-glutamyl transferase (gamma-GT) (particularly notable with alcohol-related liver disease)
Raised alkaline phosphatase (ALP) later in the disease
Raised bilirubin in cirrhosis
Low albumin due to reduced synthetic function of the liver
Increased prothrombin time due to reduced synthetic function of the liver (reduced production of clotting factors)
Deranged U&Es in hepatorenal syndrome

65
Q

what other investigations are used for alcohol-related liver disease:
-US
CT AND MRI
LIVER BIOPSY
FIBROSCAN (TI)
Endoscopy

A

Liver ultrasound may show early fatty changes with “increased echogenicity”. Later, it can show changes related to cirrhosis. Ultrasound is used to screen for hepatocellular carcinoma in patients with cirrhosis.

Transient elastography (“FibroScan”) can be used to assess the elasticity of the liver using high-frequency sound waves. It helps determine the degree of fibrosis (scarring).

Endoscopy can be used to assess for and treat oesophageal varices when portal hypertension is suspected.

CT and MRI scans can be used to look for fatty infiltration of the liver, hepatocellular carcinoma, hepatosplenomegaly, abnormal blood vessel changes and ascites.

Liver biopsy can be used to confirm the diagnosis of alcohol-related hepatitis or cirrhosis, particularly in patients where steroid treatment is being considered for alcohol-related hepatitis.

66
Q

what are some of the management plan for alcohol-related liver disease:

A

Stop drinking alcohol permanently (drug and alcohol services are available for support)
Psychological interventions (e.g., motivational interviewing or cognitive behavioural therapy)
Consider a detoxication regime
Nutritional support with vitamins (particularly thiamine – vitamin B1) and a high-protein diet
Corticosteroids may be considered to reduce inflammation in severe alcoholic hepatitis to improve short-term outcomes (but not long-term outcomes)
Treat complications of cirrhosis (e.g., portal hypertension, varices, ascites and hepatocellular carcinoma)
Liver transplant in severe disease (generally 6 months of abstinence is required)

67
Q

what tool can be used to screen for alcohol use

A

The CAGE questions can be used to quickly screen for harmful alcohol use:

C – CUT DOWN? Do you ever think you should cut down?
A – ANNOYED? Do you get annoyed at others commenting on your drinking?
G – GUILTY? Do you ever feel guilty about drinking?
E – EYE OPENER? Do you ever drink in the morning to help your hangover or nerves?

68
Q

what tool is introduced by WHO to screen people for harmful alcohol use?

A

AUDIT Questionnaire. The Alcohol Use Disorders Identification Test (AUDIT) was developed by the World Health Organisation to screen people for harmful alcohol use. It involves 10 questions with multiple-choice answers and gives a score. A score of 8 or more indicates harmful use.

69
Q

Describe the stages of alcohol withdrawal symptoms.
-6-12 hours
12-24 hours
24-48 hours
24-72 hours

A

6-12 hours: tremor, sweating, headache, craving and anxiety
12-24 hours: hallucinations
24-48 hours: seizures
24-72 hours: delirium tremens

70
Q

what is delirium tremens

A

Delirium tremens is a medical emergency associated with alcohol withdrawal. There is a 35% mortality rate if left untreated.

71
Q

How does alcohol affect the brain and its function

A

alcohol is a depressant substance. It stimulates GABA receptors in the brain. GABA receptors relaxes the electrical activity of the brain whilst alcohol inhibits the glutumate receptors (NMDA) which further relaxes brain’s activity.
Chronic alcohol use results in the GABA system becoming down-regulated and the glutamate system becoming up-regulated to balance the effects of alcohol. When alcohol is removed, the GABA system under-functions and the glutamate system over-functions, causing extreme excitability of the brain and excessive adrenergic (adrenalin-related) activity.

72
Q

what symptoms may alcohol withdrawal patients present with:

A

Acute confusion
Severe agitation
Delusions and hallucinations
Tremor
Tachycardia
Hypertension
Hyperthermia
Ataxia (difficulties with coordinated movements)
Arrhythmias

73
Q

what tool is used for managing alcohol withdrawal

A

The CIWA-Ar (Clinical Institute Withdrawal Assessment for Alcohol, revised) tool can be used to score the patient on their withdrawal symptoms and guide treatment.

74
Q

what treatment is used to manage alcohol withdrawal?

A

Chlordiazepoxide (Librium) is a benzodiazepine used to combat the effects of alcohol withdrawal. Diazepam is a less commonly used alternative. It is given orally as a reducing regime titrated to the required dose based on the local alcohol withdrawal protocol (e.g., 10 – 40 mg every 1 – 4 hours). The dose is reduced over 5-7 days.

High-dose B vitamins (Pabrinex) is given intramuscularly or intravenously, followed by long-term oral thiamine. This is used to prevent Wernicke-Korsakoff syndrome.

75
Q

what deficiency does alcohol leads to?

A

thiamine (vitamin B1) poorly absorbed in the presence of alcohol.

76
Q

what condition does thiamine deficiency leads to?

A

wernicke’s encepholopathy, Korsakoff syndrome

77
Q

what are the features of wernicke’s encephalopathy?

A

Confusion
Oculomotor disturbances (disturbances of eye movements)
Ataxia (difficulties with coordinated movements)

78
Q

what feautures are present in Korsakoff syndrome

A

Memory impairment (retrograde and anterograde)
Behavioural changes

79
Q

what is the management for Wernicke’s encephalopathy and Korsakoff syndrome

A

Wernicke’s encephalopathy is a medical emergency with a high mortality rate. Korsakoff syndrome is often irreversible and results in patients requiring full-time institutional care. Prevention and treatment involve thiamine supplementation and abstaining from alcohol.

80
Q

How does Wilson’s disease affect the liver and CNS.

A

Copper deposition can lead to cirrhosis, affecting the CNS can lead to neurogloical and psychiatric problems.

Neurological symptoms can include tremor, dysarthria (speech difficulties) and dystonia (abnormal muscle tone). Copper deposition in the basal ganglia causes Parkinsonism (tremor, bradykinesia and rigidity).

Psychiatric symptoms can include abnormal behaviour, depression, cognitive impairment and psychosis.

81
Q

what type of genetic condition is wilson’s disease

A

autosomal recessive where there is excessive amount of copper in the body tissues, mainly in liver . caused by mutation in the Wilson disease protein gene on chrom-13. This copper protein-transporting protein is important in helping removing excess copper from the body via the liver. copper is excreted in the bile.

82
Q

what age group does wilson’s disease present in.

A

Teenagers or young adults. It is rare for symptoms to start after age 40. The presenting features vary significantly between individuals.

83
Q

what are the clinical presentation of wilson’s disease? (2)

A

Kayser-Fleischer rings in the cornea (deposition of copper in Descemet’s membrane) may be seen in Wilson’s disease. These are green-brown circles surrounding the iris of the eye. They can usually be seen by the naked eye but proper assessment is made using slit lamp examination.

Haemolytic anaemia (low haemoglobin caused by red blood cell destruction) may also be a feature.

84
Q

what diagnostic tool is used for wilson’s disease.

A

Serum caeruloplasmin is the initial screening test for suspected Wilson’s disease. A low serum caeruloplasmin is suggestive of Wilson’s disease. Caeruloplasmin is the protein that carries copper in the blood. It can be falsely normal or elevated in cancer or inflammatory conditions.
A 24-hour urine copper assay will show high urinary copper.

Liver biopsy can be used to assess the liver copper content and assess liver disease.

Scoring systems that consider various features and laboratory results are used to establish the diagnosis.

Other investigations:

Kayser-Fleischer rings on slit lamp examination
MRI brain may show changes, including the characteristic “double panda sign”
Low haemoglobin with haemolytic anaemia (negative Coombs test)
Genetic testing (including screening family members)

85
Q

A low serum caeruloplasmin is suggestive of Wilson’s disease. Caeruloplasmin is the protein that carries copper in the blood. It can be falsely normal or elevated in cancer or inflammatory conditions. True or false.

A

True.

86
Q

what is the management for wilson’s disease

A

Treatment is with copper chelation using either:

Penicillamine
Trientine
It’s to remove copper accumulated in tissues and to prevent further accumulation.

Other treatments include:

Zinc salts (inhibit copper absorption in the gastrointestinal tract)
Liver transplantation,

87
Q

what are other causes of hepatitis other than viral hepatitis

A

NAFLD
Alcoholic liver disease
drug induced
autoimmune disease

88
Q

which hepatitis are together

A

hepatitis B and D

89
Q

Name the type of virus for viral hepatitis

A

Hepatitis A

RNA

Faecal-oral route

Yes

Supportive

Hepatitis B

DNA

Blood/bodily fluids

Yes

Supportive/antivirals

Hepatitis C

RNA

Blood

No

Direct-acting antivirals

Hepatitis D

RNA

Always with hepatitis B

No

Pegylated interferon alpha

Hepatitis E

RNA

90
Q

Name the treatment for each viral hepatitis

A

Hep A- supportive (doesn’t lead to cirrhosis)
Hep E- supportive (doesn’t lead to cirrhosis)
Hep B- supportive/ antivirals
Hep C- direct-acting antivirals
Hep D- Pegylated infer alpha

91
Q

what are the transmission route for viral hepatitis

A

Hep A- faecal-oral- travelling
Hep B- Blood, Bodily fluids
Hep C- Blood
Hep D- Always with Hep B
Hep E- faecal-oral- seafood travelling

92
Q

Is there vaccine for viral hepatitis

A

Hep A- yes
Hep B- Yes
Hep C- NO
Hep D- No
Hep E- No.

93
Q

Viral hepatitis may be asymptomatic or present with non-specific symptoms of:

A

Abdominal pain
Fatigue
Flu-like illness
Pruritus (itching)
Muscle and joint aches
Nausea and vomiting
Jaundice

94
Q

what are the LFT findings for Viral hepatitis

A

A “hepatitic picture” on liver function tests refers to high transaminases (AST and ALT) with proportionally less of a rise in ALP. Transaminases are liver enzymes released into the blood due to inflammation of the liver cells.

Bilirubin can also rise as a result of inflammation of the liver cells. High bilirubin causes jaundice.

95
Q

Name two types of AIH , at what age are they more present

A

Type 1 typically affects women in their late forties or fifties. It presents around or after menopause with fatigue and features of liver disease on examination. It takes a less acute course than type 2.

Type 2 usually affects children or young people, more commonly girls. It presents with acute hepatitis with high transaminases and jaundice.

96
Q

what investigations are used for AIH

A

Investigations will show high transaminases (ALT and AST) and minimal change in ALP levels (a “hepatitic” picture). Raised immunoglobulin G (IgG) levels are an important finding.

Autoantibodies in type 1 autoimmune hepatitis are:

Anti-nuclear antibodies (ANA)
Anti-smooth muscle antibodies (anti-actin)
Anti-soluble liver antigen (anti-SLA/LP)

Autoantibodies in type 2 autoimmune hepatitis are:

Anti-liver kidney microsomes-1 (anti-LKM1)
Anti-liver cytosol antigen type 1 (anti-LC1)

97
Q

what autoantibodies are present in type 1 autoimmune hepatitis

A

Anti-nuclear antibodies (ANA)
Anti-smooth muscle antibodies (anti-actin)
Anti-soluble liver antigen (anti-SLA/LP)

98
Q

what autoantibodies are present in type 2 autoimmune hepatitis

A

Anti-liver kidney microsomes-1 (anti-LKM1)
Anti-liver cytosol antigen type 1 (anti-LC1)

99
Q

what are the liver biopsy finding in AIH

A

Liver biopsy forms part of the diagnosis. Key histology findings are interface hepatitis and plasma cell infiltration.

100
Q

what is the management for AIH

A

Treatment is with high-dose steroids (e.g., prednisolone). Other immunosuppressants are also used, particularly azathioprine. Immunosuppressant treatment is usually successful at inducing remission (controlling the disease).

Liver transplant may be required in end-stage liver disease. Autoimmune hepatitis can reoccur in the new liver.

101
Q

what type of genetic condition is Haemochromatosis

A

autosomal recessive resulting in iron overload.
The human haemochromatosis protein (HFE) gene is located on chromosome 6. The majority of cases of haemochromatosis relate to C282Y mutations in this gene. Mutations are required in both copies of the gene (homozygous) since it is an autosomal recessive condition. This gene is important in regulating iron metabolism.

102
Q

describe presentation of a patient with haemochromatosis

A

age ove 40, when iron overlaod become symptomatic.
Chronic tiredness
Joint pain
Pigmentation (bronze skin)
Testicular atrophy
Erectile dysfunction
Amenorrhoea (absence of periods in women)
Cognitive symptoms (memory and mood disturbance)
Hepatomegaly

103
Q

why is haemochromatosis presented later in females?

A

It presents later in females due to menstruation acting to eliminate iron from the body regularly.

104
Q

what is the diagnosis for Haemochromatosis

A

Serum ferritin is the initial investigation.

105
Q

serum ferritin tends to be higher for the conditions below. explain why:

A

Haemochromatosis
Infections (it is an acute phase reactant)
Chronic alcohol consumption
Non-alcoholic fatty liver disease
Hepatitis C
Cancer

106
Q

when is genetic testing for mutations in the hFE gense checked for.

A

Genetic testing for mutations in the HFE gene is used when the serum ferritin and transferrin saturation are both high in haemochromatosis.

107
Q

what are liver biopsy findings for haemochromatosis

A

Liver biopsy with Perl’s stain can be used to establish the iron concentration in the liver. Genetic testing means that a liver biopsy is not usually necessary for establishing a diagnosis. It may help stage the fibrosis and exclude other liver pathology.

108
Q

what are some complications of haemochromatosis (7)

A

Secondary diabetes (iron affects the functioning of the pancreas)
Liver cirrhosis
Endocrine and sexual problems (hypogonadism, erectile dysfunction, amenorrhea and reduced fertility)
Cardiomyopathy (iron deposits in the heart)
Hepatocellular carcinoma
Hypothyroidism (iron deposits in the thyroid)
Chondrocalcinosis (calcium pyrophosphate deposits in joints) causes arthritis

109
Q

what is the management for haemochromatosis

A

Venesection (regularly removing blood to remove excess iron – initially weekly)
Monitoring serum ferritin
Monitoring and treating complications

110
Q

how does Haemochromatosis affect thyroid, diabetes, heart

A

hypothyrodism- iron deposit in the thyroid
cardiomiopathy- iron deposits in the heart
secondary diabetes- iron affects the functioning of the pancrease.

111
Q
A
111
Q
A
111
Q
A
111
Q
A
111
Q
A