Gastroenterology Flashcards
Which mnemonic helps differentiate Crohn’s disease and what does it stand for?
NESTS
N: No blood or mucus (PR bleeding less common)
E: Entire GI tract affected
S: Skip lesions on endoscopy
T: Terminal ileum most affected and Transmural inflammation
S: Smoking is a risk factor
Which mnemonic helps differentiate ulcerative colitis and what does it stand for?
CLOSEUP:
C: Continuous inflammation
L: Limited to colon and rectum
O: Only superficial mucosa affected
S: Smoking may be protective
E: Excrete blood and mucus
U: Use aminosalicylates
P: Primary sclerosing cholangitis
What condition is ulcerative colitis particularly associated with?
Primary sclerosing cholangitis.
What skin conditions can occur with inflammatory bowel disease?
Erythema nodosum
Pyoderma gangrenosum
What eye conditions are associated with IBD?
Episcleritis
Scleritis
Anterior uveitis
What stool test is around 90% sensitive and specific for IBD in adults?
Faecal calprotectin.
What is the investigation of choice for diagnosing IBD?
Colonoscopy with multiple intestinal biopsies.
What is the first-line treatment for mild to moderate acute ulcerative colitis?
Aminosalicylates (e.g., oral or rectal mesalazine).
What is the first-line treatment for severe acute ulcerative colitis?
Intravenous steroids (e.g., IV hydrocortisone).
What surgical procedure is curative for ulcerative colitis?
Panproctocolectomy (removal of the large bowel and rectum).
What are the two surgical options after a panproctocolectomy?
Permanent ileostomy
Ileo-anal anastomosis (J-pouch)
What is the first-line treatment for inducing remission in an exacerbation of Crohn’s disease?
Steroids (e.g., oral prednisolone or IV hydrocortisone).
What is an alternative treatment to steroids for inducing remission in Crohn’s disease, especially in children?
Enteral nutrition.
What are the first-line options for maintaining remission in Crohn’s disease?
Azathioprine
Mercaptopurine
What are the surgical options for Crohn’s disease?
Resecting the distal ileum
Treating strictures
Treating fistulas
List three red flag features in GORD (in addition to dysphagia) that may indicate a need for an urgent two-week wait referral.
Weight loss
Treatment-resistant dyspepsia
Upper abdominal mass on palpation
What is the most common type of hiatus hernia?
Sliding hiatus hernia (Type 1).
What bacteria is associated with gastritis, ulcers, and an increased risk of stomach cancer?
Helicobacter pylori (H. pylori).
Name two methods used to test for H. pylori infection.
Stool antigen test
Urea breath test
What is the typical treatment for H. pylori infection?
Triple therapy with a proton pump inhibitor and two antibiotics (e.g., amoxicillin and clarithromycin) for 7 days.
What is Barrett’s oesophagus and why is it significant?
Barrett’s oesophagus is a condition where the lower oesophageal epithelium changes from squamous to columnar, increasing the risk of oesophageal adenocarcinoma.
What is the treatment for Barrett’s oesophagus to monitor or prevent progression to cancer?
Endoscopic monitoring
Proton pump inhibitors
Endoscopic ablation (e.g., radiofrequency ablation)
What is Zollinger-Ellison syndrome?
A rare condition where a duodenal or pancreatic tumour secretes excessive gastrin, leading to severe dyspepsia, peptic ulcers, and diarrhoea.
What genetic condition is associated with Zollinger-Ellison syndrome?
Multiple endocrine neoplasia type 1 (MEN1).
What types of medications increase the risk of bleeding from a peptic ulcer?
Non-steroidal anti-inflammatory drugs (NSAIDs)
Aspirin
Anticoagulants (e.g., DOACs)
Steroids
SSRI antidepressants
How can chronic microscopic bleeding from a peptic ulcer affect the blood?
It can lead to iron deficiency anaemia, resulting in low haemoglobin, low mean cell volume (MCV), and low ferritin.
What is gastric outlet obstruction and how does it present?
Gastric outlet obstruction is a narrowing of the stomach exit due to scarring and strictures, leading to early fullness after eating, upper abdominal discomfort, abdominal distension, and vomiting after meals.
How can gastric outlet obstruction be treated?
It may be treated with balloon dilatation during an endoscopy or surgery.
How can you differentiate between gastric and duodenal ulcers based on eating patterns and pain?
Eating worsens the pain in gastric ulcers, while in duodenal ulcers, pain improves immediately after eating but worsens 2-3 hours later.
What is the most common cause of upper gastrointestinal bleeding? Name four other potential sources of upper GI bleeding.
Peptic ulcers.
Mallory-Weiss tear (tear of the oesophageal mucosa)
Oesophageal varices (due to portal hypertension in liver cirrhosis)
Stomach cancer
Gastritis or esophagitis
What factors does the Glasgow-Blatchford score take into account? (8)
Haemoglobin
Urea
Systolic blood pressure
Heart rate
Presence of melaena
Syncope
Liver disease
Heart failure
What is the purpose of the Rockall score?
It estimates the risk of rebleeding and mortality after endoscopy.
What factors does the Rockall score include? (5)
Age
Features of shock (e.g., tachycardia, hypotension)
Co-morbidities
Cause of bleeding
Endoscopic findings of recent bleeding
What does the mnemonic ABATED stand for in the management of upper GI bleeding?
A – ABCDE approach
B – Bloods (FBC, U&Es, INR, LFTs, crossmatch)
A – Access (2 large bore cannulas)
T – Transfusions (as needed)
E – Endoscopy (within 24 hours)
D – Drugs (stop anticoagulants and NSAIDs)
When are platelets given in UGIB?
When there is active bleeding plus thrombocytopenia (platelet count <50).
What is given to patients on warfarin who are actively bleeding?
Prothrombin complex concentrate.
What additional treatments are needed if oesophageal varices are suspected?
Terlipressin
Broad-spectrum antibiotics
When should a proton pump inhibitor (PPI) be used in upper GI bleeding?
After endoscopy for non-variceal bleeding, as per NICE guidelines (2016).
What criteria are required for an IBS diagnosis according to NICE?
A history of at least 6 months of abdominal pain or discomfort with one of the following:
- Pain or discomfort relieved by opening the bowels
- Bowel habit abnormalities
- Stool abnormalities (e.g., watery, loose, or hard)
and At least two of the following:
- Straining, urgency, or incomplete emptying
- Bloating
- Symptoms worse after eating
- Passing mucus
What is recommended for constipation in IBS?
Bulk-forming laxatives (e.g., ispaghula husk). Lactulose should be avoided due to bloating.
2nd line: Linaclotide (a specialist secretory drug).
What is prescribed for abdominal cramps in IBS?
Antispasmodics such as mebeverine, alverine, hyoscine butylbromide, or peppermint oil.
Which antibodies are related to Coeliac Disease?
Anti-tissue transglutaminase antibodies (anti-TTG)
Anti-endomysial antibodies (anti-EMA)
Anti-deamidated gliadin peptide antibodies (anti-DGP)
Which human leukocyte antigen (HLA) genotypes are associated with Coeliac Disease?
HLA-DQ2 and HLA-DQ8.
What skin condition is associated with Coeliac Disease?
Dermatitis herpetiformis, an itchy, blistering skin rash, often on the abdomen.
What neurological symptoms can rarely present with Coeliac Disease?
Peripheral neuropathy
Cerebellar ataxia
Epilepsy
What is the first-line blood test for diagnosing Coeliac Disease?
Total immunoglobulin A (IgA) levels
Anti-tissue transglutaminase antibodies (anti-TTG)
What are the main complications of untreated Coeliac Disease?
Nutritional deficiencies
Anaemia
Osteoporosis
Hyposplenism (increased infection risk)
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL)
Non-Hodgkin lymphoma
Small bowel adenocarcinoma
What is the mnemonic for key IBS features?
I: Intestinal discomfort (abdominal pain related to bowel movements)
B: Bowel habit abnormalities
S: Stool abnormalities (e.g., watery, loose, hard, or mucusy)
Common symptoms of IBS?
- Abdominal pain
- Diarrhoea or constipation (or fluctuating bowel habit)
- Bloating
- Symptoms worse after eating
- Symptoms improve after opening bowels
- Passing mucus
Common triggers for IBS symptoms?
- Stress, anxiety, depression
- Sleep disturbance
- Certain foods, caffeine, or alcohol
- Medications
- Illness
Lifestyle advice for IBS?
- Drink adequate fluids.
- Eat regular, small meals.
- Adjust fibre intake based on symptoms. Increase for constipation. Decrease for diarrhoea or bloating.
- Limit caffeine, alcohol, and fatty foods.
- Consider a low FODMAP diet (guided by a dietitian).
- Probiotic supplements (discontinue after 12 weeks if no benefit).
- Stress management and regular exercise.
What are the four most common causes of liver cirrhosis?
Alcohol-related liver disease, non-alcoholic fatty liver disease (NAFLD), hepatitis B, and hepatitis C.
What skin signs are commonly seen in liver cirrhosis?
- Spider naevi
- palmar erythema
- jaundice
- excoriations
- caput medusae.
What endocrine-related signs can occur in males with liver cirrhosis?
Gynaecomastia
testicular atrophy
What blood test indicates advanced fibrosis in NAFLD?
Enhanced liver fibrosis (ELF) test (≥10.51 indicates advanced fibrosis).
What drugs can cause cirrhosis?
Amiodarone, methotrexate, and sodium valproate.
What general physical signs suggest liver cirrhosis?
Cachexia, jaundice, hepatomegaly, and splenomegaly.
What neurological sign is characteristic of decompensated liver disease?
Asterixis, or “flapping tremor.”
What nail changes can occur in cirrhosis?
Leukonychia, associated with hypoalbuminemia.
What tests are included in a non-invasive liver screen?
- 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)
Autoantibodies relevant to liver disease include:
- Antinuclear antibodies (ANA)
- Smooth muscle antibodies (SMA)
- Antimitochondrial antibodies (AMA)
- Antibodies to liver kidney microsome type-1 (LKM-1)
What autoantibodies are relevant to liver diseases?
ANA
SMA
AMA
LKM-1
How are liver function tests affected in decompensated cirrhosis?
Raised bilirubin, ALT, AST, and ALP.
What imaging findings suggest cirrhosis on ultrasound?
Nodular liver surface, “corkscrew” hepatic arteries, enlarged portal vein, ascites, and splenomegaly.
What is transient elastography, and when is it used?
Transient elastography (“FibroScan”) measures liver stiffness to assess fibrosis in conditions like alcohol-related liver disease, NAFLD, hepatitis B, and C.
What are the effects of cirrhosis on albumin and clotting?
Low albumin and prolonged prothrombin time due to reduced synthetic liver function.
What blood abnormalities (not LFT) suggest advanced liver cirrhosis?
Thrombocytopenia, hyponatraemia, and deranged urea and creatinine.
What is alpha-fetoprotein used for in cirrhosis?
It is a tumor marker for hepatocellular carcinoma.
What does the MELD score assess?
Model for End-Stage Liver Disease
The 3-month mortality risk in patients with cirrhosis, considering bilirubin, creatinine, INR, sodium, and dialysis requirement.
every 6 months in patients with compensated cirrhosis
What factors are included in the Child-Pugh score?
Albumin, bilirubin, INR (clotting), ascites, and encephalopathy (“ABCDE” mnemonic).
A – Albumin
B – Bilirubin
C – Clotting (INR)
D – Dilation (ascites)
E – Encephalopathy
What is ELF blood test?
The enhanced liver fibrosis (ELF) blood test is the first-line investigation for assessing fibrosis in NAFLD. It is not used in patients with other causes of 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)
What are the four principles of managing cirrhosis?
Treat the underlying cause, monitor for complications, manage complications, and consider liver transplantation.
What is the AHOY mnemonic for features of decompensated cirrhosis requiring transplantation?
Ascites
Hepatic encephalopathy
Oesophageal varices bleeding
Yellow - jaundice.
How is liver cirrhosis monitored for complications?
- MELD score every 6 months
- Ultrasound and alpha-fetoprotein every 6 months for hepatocellular carcinoma
- Endoscopy every 3 years for oesophageal varices
What are three major consequences of portal hypertension?
Splenomegaly
Oesophageal varices
Caput medusae
How is bleeding from oesophageal varices managed acutely?
- 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
What causes ascites in cirrhosis?
Portal hypertension and sodium retention due to activation of the renin-angiotensin-aldosterone system.
How is ascites managed?
- 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
What are symptoms of SBP?
Fever, abdominal pain, ileus, and hypotension.
How is SBP treated?
Ascitic fluid culture followed by intravenous broad-spectrum antibiotics (e.g., tazocin).
What are the most common organisms in SBP?
Escherichia coli
Klebsiella pneumoniae
What are the symptoms of hepatic encephalopathy?
Confusion, reduced consciousness, and chronic mood or memory changes.
How is hepatic encephalopathy managed?
Lactulose (2-3 soft stools daily) and rifaximin to reduce ammonia levels.
What causes hepatorenal syndrome in cirrhosis?
Portal hypertension and vasodilators reduce renal perfusion, leading to kidney dysfunction.
What is the 5-year survival rate for cirrhosis?
Around 50%.
How is hepatocellular carcinoma monitored in cirrhosis?
Ultrasound and alpha-fetoprotein every 6 months.
How often should patients with compensated cirrhosis have a MELD score calculated?
Every 6 months.
What are the recommended alcohol consumption guidelines in the UK?
- Do not drink more than 14 units per week.
- Spread consumption evenly over 3+ days.
- Avoid drinking more than 5 units in a single day.
- Pregnant women should avoid alcohol completely.
What complications can arise from ARLD?
- Cirrhosis and related issues (e.g., hepatocellular carcinoma).
- Alcohol dependence and withdrawal.
- Pancreatitis, alcoholic cardiomyopathy, myopathy.
- Increased risks of cardiovascular disease and certain cancers (e.g., breast, throat, mouth).
What blood test results suggest ARLD?
- Raised MCV - macrocytic anaemia
- Raised ALT, AST
- AST:ALT ratio above 1.5 particularly suggests alcohol-related liver disease
- Raised GGT (particularly notable with alcohol-related liver disease)
- Raised ALP later in the disease
- Raised bilirubin in cirrhosis
- Low albumin due to reduced synthetic function of the liver
- Increased PT due to reduced synthetic function of the liver (reduced production of clotting factors)
- Deranged U&Es in hepatorenal syndrome
What imaging techniques are used to assess ARLD?
- USS: Detects fatty liver changes with “increased echogenicity”, and screens for cirrhosis and hepatocellular carcinoma.
- Transient elastography (FibroScan): Measures liver stiffness to assess fibrosis.
- CT/MRI: Identifies fatty infiltration, hepatosplenomegaly, and complications like ascites.
- Endoscopy: Detects oesophageal varices in portal hypertension.
- Liver biopsy: Confirms severe alcoholic hepatitis or cirrhosis
What are the general principles of managing ARLD?
- Permanent abstinence from alcohol.
- Psychological support (e.g., CBT, motivational interviewing).
- Nutritional support (thiamine and high-protein diet).
- Corticosteroids for severe alcoholic hepatitis.
- Management of cirrhosis complications.
- Consider liver transplant (requires 6 months of abstinence).
What are the CAGE screening questions for alcohol use?
C: Have you felt you should cut down on drinking?
A: Do you feel annoyed when people comment on your drinking?
G: Do you feel guilty about drinking?
E: Do you drink in the morning as an eye-opener?
What is the AUDIT questionnaire?
The Alcohol Use Disorders Identification Test (AUDIT) involves 10 questions scored to identify harmful alcohol use. A score ≥8 indicates harmful use.
What are the timeframes and symptoms of alcohol withdrawal?
6-12 hours: Tremor, sweating, headache, anxiety, and cravings.
12-24 hours: Hallucinations.
24-48 hours: Seizures.
24-72 hours: Delirium tremens.
What is delirium tremens?
A medical emergency with extreme brain excitability and adrenergic activity. Symptoms include:
- Acute confusion, severe agitation, hallucinations.
- Arrhythmias, tachycardia, hypertension.
- Hyperthermia, ataxia, and tremors.
How is alcohol withdrawal managed?
- Chlordiazepoxide (Librium): Benzodiazepine given orally as a reducing regime over 5-7 days.
- Pabrinex: High-dose intravenous thiamine to prevent Wernicke-Korsakoff syndrome.
- Use the CIWA-Ar tool to assess withdrawal severity.
What causes Wernicke-Korsakoff syndrome?
Chronic alcohol use and poor diet lead to thiamine (vitamin B1) deficiency.
What are the symptoms of Wernicke’s encephalopathy?
COAT
Confusion
Ophthalmoplegia
Ataxia
Thiamine deficiency
What are the symptoms of Korsakoff syndrome?
RACK
Retrograde amnesia
Anterograde amnesia
Confabulation
Korsakoff’s psychosis
How is Wernicke-Korsakoff syndrome treated and prevented?
- Immediate thiamine supplementation (Pabrinex).
- Long-term abstinence from alcohol.
What percentage of adults are estimated to have NAFLD?
Around 25% of adults are estimated to have NAFLD.
Which syndrome is strongly associated with NAFLD?
Metabolic syndrome, which includes hypertension, obesity, and diabetes, dramatically increases the risk of NAFLD and cardiovascular disease.
What is often the first indication of NAFLD on blood tests?
Raised alanine aminotransferase (ALT) levels on LFT
How is hepatic steatosis (fatty liver) confirmed?
Through liver ultrasound, which shows increased echogenicity. It does not measure liver function, severity of the disease, or fibrosis presence and can sometimes appear normal in NAFLD.
What is the first-line blood test for assessing liver fibrosis in NAFLD?
The Enhanced Liver Fibrosis (ELF) test, which measures HA, PIIINP, and TIMP-1.
What ELF test score indicates advanced liver fibrosis?
- 10.51 or above: Advanced fibrosis.
- Under 10.51: Unlikely advanced fibrosis (recheck every 3 years per NICE guidelines).
What other scoring methods assess fibrosis in NAFLD?
- NAFLD Fibrosis Score (NFS): Uses age, BMI, liver enzymes (AST and ALT), platelet count, albumin, and diabetes status.
- FIB-4 Score: Uses age, AST, ALT, and platelet count.
How does the AST:ALT ratio help differentiate liver diseases?
- AST:ALT < 1: Normal or mild fibrosis.
- AST:ALT > 0.8: Advanced fibrosis in NAFLD.
- AST:ALT > 1.5: Suggests alcohol-related liver disease rather than NAFLD.
What is required to diagnose NAFLD?
- Ultrasound findings of fatty liver.
- Presence of risk factors.
- Exclusion of other liver diseases through alcohol history and a full liver screen.
Liver biopsy is gold-standard
What specialist treatments might be used for NAFLD?
- Vitamin E: For anti-inflammatory effects.
- Pioglitazone: A medication for insulin sensitivity.
- Bariatric surgery: For obesity-related cases.
- Liver transplantation: In severe, end-stage liver disease.
How can viral hepatitis present?
It may be asymptomatic or present with:
- Abdominal pain.
- Fatigue.
- Flu-like symptoms.
- Pruritus (itching).
- Muscle and joint aches.
- Nausea and vomiting.
- Jaundice.
What is the characteristic liver function test pattern in hepatitis?
A “hepatitic picture” with elevated transaminases (AST and ALT) and proportionally less rise in ALP.
What type of virus causes hepatitis A?
How is hepatitis A transmitted?
Is there a vaccine for hepatitis A?
How is hepatitis A diagnosed?
What is the management for hepatitis A?
An RNA virus.
Via the faecal-oral route, often through contaminated food or water.
Yes, a vaccine is available.
By detecting IgM antibodies to hepatitis A.
Supportive care with basic analgesia.
What type of virus causes hepatitis B?
How is hepatitis B transmitted?
What is the prognosis for hepatitis B?
Is there a vaccine for hepatitis B?
A double-stranded DNA virus.
Through blood or bodily fluids (e.g., sexual contact, shared needles, razors, or vertical transmission from mother to child).
Most recover within 1–3 months, but 5–15% become chronic carriers.
Yes, it involves 3 doses and is part of the UK routine vaccination schedule.
What are the key viral markers in hepatitis B? (5)
- HBsAg (Surface antigen): Indicates active infection.
- HBeAg (E antigen): Indicates viral replication and high infectivity.
- HBcAb (Core antibody): Indicates past or current infection.
- HBsAb (Surface antibody): Indicates immunity or past infection.
- HBV DNA: Measures viral load.
How is hepatitis B screened?
By testing for HBsAg (active infection) and HBcAb (past infection).
What does the presence of HBeAg indicate?
High infectivity due to active viral replication
What does the presence of HBsAb indicate?
Immunity due to vaccination or past infection.
How is hepatitis B managed?
Referral to specialists.
Screening for complications (e.g., cirrhosis, hepatocellular carcinoma).
Antiviral medications to reduce infectivity.
Education on transmission prevention.
Liver transplantation for liver failure.
What type of virus causes hepatitis C?
How is hepatitis C transmitted?
Is there a vaccine for hepatitis C?
An RNA virus.
Through blood and bodily fluids.
No, there is no vaccine available.
What are the outcomes of untreated hepatitis C?
1 in 4 clear the virus and recover fully.
3 in 4 develop chronic hepatitis C.
What are complications of hepatitis C?
Liver cirrhosis.
Hepatocellular carcinoma.
How is hepatitis C diagnosed?
Hepatitis C antibody test: Screening.
Hepatitis C RNA test: Confirms diagnosis, calculates viral load, and identifies genotype.
How is hepatitis C treated?
With direct-acting antivirals (DAAs), such as sofosbuvir and daclatasvir, which cure over 90% of cases.
What type of virus causes hepatitis D?
What is unique about hepatitis D?
An RNA virus.
It only occurs in patients with hepatitis B, as it requires the HBsAg protein to survive.
How is hepatitis D treated?
What are the challenges of treating hepatitis D?
With pegylated interferon alpha for at least 48 weeks.
Treatment is not very effective and has significant side effects.
What type of virus causes hepatitis E?
How is hepatitis E transmitted?
Is there a vaccine for hepatitis E?
How is hepatitis E typically managed?
Who is at risk of severe complications from hepatitis E?
An RNA virus.
Via the faecal-oral route.
No, there is no vaccine available.
Supportive care, as it is usually self-limiting.
Immunocompromised patients.
What are the two types of autoimmune hepatitis, and how do they differ?
Type 1:
- Typically affects women in their late 40s or 50s.
- Associated with fatigue and features of liver disease.
- Has a less acute course.
Type 2:
- Affects children or young people, more commonly girls.
- Presents with acute hepatitis, high transaminases, and jaundice.
What are the typical liver function test findings in autoimmune hepatitis?
High transaminases (ALT and AST).
Minimal change in ALP levels (a “hepatitic picture”).
Which immunoglobulin is typically elevated in autoimmune hepatitis?
IgG
What are the key autoantibodies in type 1 autoimmune hepatitis?
- Anti-nuclear antibodies (ANA).
- Anti-smooth muscle antibodies (anti-actin).
- Anti-soluble liver antigen (anti-SLA/LP).
What are the key autoantibodies in type 2 autoimmune hepatitis?
- Anti-liver kidney microsomes-1 (anti-LKM1).
- Anti-liver cytosol antigen type 1 (anti-LC1).
What are the key histological findings in a liver biopsy for autoimmune hepatitis?
Interface hepatitis.
Plasma cell infiltration.
What is the first-line treatment for autoimmune hepatitis?
Which immunosuppressant is commonly used alongside steroids for autoimmune hepatitis?
High-dose steroids, such as prednisolone.
Azathioprine.
What is haemochromatosis?
An autosomal recessive genetic condition causing iron overload, with excessive iron deposition in tissues.
What gene is affected in haemochromatosis, and on which chromosome is it located?
The human haemochromatosis protein (HFE) gene, located on chromosome 6.
At what age does haemochromatosis typically present, and why does it present later in females?
After age 40. In females, menstruation delays onset by regularly eliminating iron from the body.
What are the common symptoms of haemochromatosis?
Chronic tiredness
Joint pain
Pigmentation (bronze skin)
Testicular atrophy
Erectile dysfunction
Amenorrhea
Cognitive symptoms (e.g., memory and mood disturbances)
Hepatomegaly
What is the initial investigation for suspected haemochromatosis?
Serum ferritin levels.
What are common causes of raised serum ferritin?
How can transferrin saturation help distinguish causes of high ferritin?
Haemochromatosis
Infections (acute phase reactant)
Chronic alcohol consumption
Non-alcoholic fatty liver disease
Hepatitis C
Cancer
High transferrin saturation indicates iron overload (e.g., haemochromatosis).
When is a liver biopsy with Perl’s stain used in haemochromatosis?
To establish liver iron concentration, stage fibrosis, or exclude other liver pathology when genetic testing is inconclusive.
How can MRI be used in diagnosing haemochromatosis?
To quantify iron concentration in the liver and avoid a biopsy
List the complications of haemochromatosis.
- Secondary diabetes: Due to iron affecting pancreatic function.
- Liver cirrhosis
- Endocrine and sexual problems: Hypogonadism, erectile dysfunction, amenorrhea, and reduced fertility.
- Cardiomyopathy: Due to iron deposits in the heart.
- Hepatocellular carcinoma
- Hypothyroidism: Due to iron deposits in the thyroid.
- Chondrocalcinosis: Calcium pyrophosphate deposits in joints, causing arthritis.
What is the primary treatment for haemochromatosis?
Weekly Venesection (regular removal of blood to reduce excess iron).
What is Wilson’s disease?
An autosomal recessive genetic condition resulting in excessive accumulation of copper in body tissues, particularly the liver.
What gene mutation causes Wilson’s disease, and on which chromosome is it located?
Mutations in the Wilson disease protein gene (ATP7B) located on chromosome 13. ATP7B helps remove excess copper from the body via the liver, excreting it in the bile.
At what age does Wilson’s disease typically present?
What is the first organ typically affected in Wilson’s disease, and what are the initial symptoms?
Usually in teenagers or young adults; it is rare for symptoms to start after age 40.
The liver is usually affected first, leading to chronic hepatitis and eventually cirrhosis.
What neurological symptoms may occur in Wilson’s disease?
- Tremor
- Dysarthria (speech difficulties)
- Dystonia (abnormal muscle tone)
- Parkinsonism (tremor, bradykinesia, and rigidity)
What psychiatric symptoms can occur in Wilson’s disease?
Abnormal behavior
Depression
Cognitive impairment
Psychosis
What are Kayser-Fleischer rings, and where are they found?
Green-brown circles around the iris caused by copper deposition in Descemet’s membrane of the cornea. Seen on slit lamp exam.
What type of anaemia is associated with Wilson’s disease?
Haemolytic anaemia caused by red blood cell destruction
What is the initial screening test for Wilson’s disease?
Serum caeruloplasmin levels.
What are some other diagnostic investigations for Wilson’s disease?
- Slit lamp examination for Kayser-Fleischer rings.
- MRI brain, which may show the “double panda sign.”
- Low haemoglobin with haemolytic anaemia (negative Coombs test).
- Genetic testing, including screening family members.
What is the primary treatment for Wilson’s disease?
What other treatment can inhibit copper absorption in the gastrointestinal tract?
Copper chelation therapy using either:
- Penicillamine
- Trientine
Zinc salts.
Which organs are primarily affected by Alpha-1 Antitrypsin deficiency?
Lungs: Leads to chronic obstructive pulmonary disease (COPD) and bronchiectasis.
Liver: Causes dysfunction, fibrosis, cirrhosis, and sometimes hepatocellular carcinoma.
Which gene is responsible for Alpha-1 Antitrypsin, and on which chromosome is it located?
The SERPINA1 gene, located on chromosome 14.
How is Alpha-1 Antitrypsin Deficiency inherited?
In an autosomal co-dominant pattern, meaning both gene copies contribute to the outcome.
What is the primary role of Alpha-1 Antitrypsin (AAT)?
To inhibit protease enzymes like neutrophil elastase, which digests elastin in connective tissue.
How does AAT deficiency affect the lungs?
- Protease imbalance leads to excessive destruction of elastic lung tissue.
- Results in bronchiectasis and emphysema.
- Smoking accelerates lung damage significantly.
How does AAT deficiency affect the liver?
- Mutant AAT proteins accumulate in hepatocytes.
- Causes inflammation, leading to fibrosis, cirrhosis, and hepatocellular carcinoma.
What rare conditions are associated with AAT deficiency?
Panniculitis: Tender skin nodules from subcutaneous fat inflammation.
Granulomatosis with Polyangiitis: Small and medium vessel vasculitis.
What is the initial screening test for AAT deficiency?
Low serum alpha-1 antitrypsin levels.
How is lung damage assessed in AAT deficiency?
Chest X-ray
High-resolution CT thorax
Pulmonary function tests
What does liver biopsy reveal in AAT deficiency?
Periodic acid-Schiff (PAS) positive staining globules in hepatocytes, resistant to diastase treatment.
What are the main strategies to manage AAT deficiency?
- Stop smoking to slow lung damage.
- Symptomatic management, including standard COPD treatments.
- Organ transplant for end-stage liver or lung disease.
- Monitor for complications, such as hepatocellular carcinoma.
What is the role of alpha-1 antitrypsin infusions in treatment?
They can boost levels, but their clinical benefit is unclear, and NICE guidelines recommend against their use in COPD management.
What is Primary Biliary Cholangitis (PBC)?
An autoimmune condition where the immune system attacks the intrahepatic bile ducts, leading to cholestasis, liver fibrosis, and failure.
Which demographic is most commonly affected by PBC?
White women aged 40-60 years.
What are the key consequences of bile duct damage in PBC?
- Cholestasis (bile flow obstruction).
- Accumulation of bile acids, bilirubin, and cholesterol in the blood.
- Liver fibrosis, cirrhosis, and eventual failure.
What causes itching, jaundice, and cholesterol deposits in PBC?
Itching: Raised bile acids in the blood.
Jaundice: Raised bilirubin.
Cholesterol deposits (xanthomas/xanthelasma): Raised cholesterol.
What are the main symptoms of PBC?
Fatigue
Pruritus (itching)
Jaundice
Pale, greasy stools
Dark urine
Gastrointestinal pain
What signs might you see on examination in PBC?
- Xanthomas/xanthelasma (cholesterol deposits).
- Excoriations (due to itching).
- Hepatomegaly.
- Signs of cirrhosis or portal hypertension (e.g., splenomegaly, ascites).
What do liver function tests typically show in PBC?
Raised alkaline phosphatase (ALP) (most notable).
Other liver enzymes (e.g., AST, ALT) and bilirubin rise later
Which autoantibodies are associated with PBC?
- Anti-mitochondrial antibodies (AMA) (highly specific).
- Anti-nuclear antibodies (ANA) (in ~35% of patients).
What additional findings may help in diagnosis of PBC?
- Raised IgM levels (non-specific).
- Liver biopsy for staging and confirming diagnosis.
What is the first-line treatment for PBC?
Ursodeoxycholic acid
What are other treatment options for PBC?
- Obeticholic acid (if UDCA is inadequate or not tolerated).
- Colestyramine: Relieves pruritus by binding bile acids in the gut.
- Vitamin replacement: For fat-soluble vitamin deficiencies (A, D, E, K).
- Immunosuppression: Occasionally used.
- Liver transplant: In end-stage liver disease.
What are the key complications of PBC?
- Cirrhosis and portal hypertension.
- Hepatocellular carcinoma.
- Fat-soluble vitamin deficiency (A, D, E, K).
- Osteoporosis.
- Hyperlipidaemia.
What autoimmune diseases are associated with PBC?
- Sjögren’s syndrome: Dry eyes, mouth, and vaginal dryness.
- Connective tissue diseases (e.g., systemic sclerosis).
- Thyroid disease.
What two key findings should make you think of PBC in exams?
Anti-mitochondrial antibodies (AMA).
Raised alkaline phosphatase (ALP).
Bonus clue: A middle-aged white woman with pruritus and cholestatic LFTs.
What is primary sclerosing cholangitis (PSC)?
A condition causing inflammation, damage, and strictures in the intrahepatic and extrahepatic bile ducts, leading to bile obstruction, liver inflammation, fibrosis, and cirrhosis.
What is the typical demographic for PSC?
Males
Aged 30-40 years
Associated with ulcerative colitis (UC) (~70% of cases)
What is the pathophysiology of PSC?
- Bile duct inflammation → strictures → bile obstruction.
- Chronic obstruction → hepatitis, fibrosis, cirrhosis.
What conditions are associated with PSC?
Ulcerative colitis (most commonly).
Less commonly with Crohn’s disease.
How does PSC commonly present?
Often asymptomatic (diagnosed via abnormal LFTs).
Symptoms:
- RUQ pain
- Pruritus (itching)
- Fatigue
- Jaundice
- Hepatomegaly
- Splenomegaly
What do liver function tests show in PSC?
Raised alkaline phosphatase (ALP) (most notable).
Other liver enzymes and bilirubin are elevated later.
What is the diagnostic imaging for PSC?
Magnetic resonance cholangiopancreatography (MRCP): Shows bile duct strictures.
Are autoantibodies helpful in diagnosing PSC?
Autoantibodies are non-specific. Commonly found are:
- p-ANCA
- ANA
- Anti-SMA
How are bile duct strictures managed in PSC?
Endoscopic retrograde cholangio-pancreatography (ERCP):
- Dilates strictures.
- Inserts stents to keep ducts open.
- Antibiotics given to prevent bacterial cholangitis.
What supportive treatments are used in PSC?
- Colestyramine: Reduces pruritus.
- Fat-soluble vitamin replacement (A, D, E, K).
- Monitoring for complications (e.g., cholangiocarcinoma, cirrhosis).
What are the complications of PSC?
- Biliary strictures.
- Acute bacterial cholangitis.
- Cholangiocarcinoma (~10-20% of cases).
- Cirrhosis and complications (e.g., portal hypertension, oesophageal varices).
- Fat-soluble vitamin deficiency (A, D, E, K).
- Osteoporosis.
- Colorectal cancer (in patients with UC).
How does IgG4-related sclerosing cholangitis differ from PSC?
- Elevated IgG4 levels in the blood.
- Responds well to steroids.
- Associated with autoimmune pancreatitis.
What is the most common type of primary liver cancer?
Hepatocellular carcinoma (HCC).
How is screening for HCC performed in patients with liver cirrhosis?
Ultrasound every 6 months.
Alpha-fetoprotein (AFP) blood test.
What are curative options for HCC in early disease? What are other treatment options for HCC?
Liver resection (if tumour is localised).
Liver transplant (if tumour meets transplant criteria).
Radiofrequency ablation or microwave ablation (heat destruction).
Transarterial chemoembolisation (TACE).
Radiotherapy.
Targeted drugs (e.g., kinase inhibitors, monoclonal antibodies).
What is transarterial chemoembolisation (TACE)?
A procedure delivering chemotherapy directly to the hepatic artery feeding the tumour, followed by blocking its blood supply with embolisation.
What is the most common site for cholangiocarcinoma?
Perihilar region (where the right and left hepatic ducts join to form the common hepatic duct).
What condition is associated with cholangiocarcinoma?
Primary sclerosing cholangitis (PSC).
What is the key symptom of cholangiocarcinoma?
Painless obstructive jaundice, with:
Pale stools.
Dark urine.
Generalised itching.
Exam Tip:
Painless jaundice = Think of cholangiocarcinoma or pancreatic cancer (more common).
What tumour marker is used for cholangiocarcinoma?
CA19-9.
What is a haemangioma?
A common benign liver tumour.
Asymptomatic and non-malignant.
No treatment or monitoring is required.
What is focal nodular hyperplasia (FNH)?
A benign liver tumour made of fibrotic tissue.
Associated with oestrogen, more common in women and oral contraceptive users.
Asymptomatic and non-malignant, with no treatment needed.
How is ulcerative colitis classified in terms of severity?
The severity of UC is usually classified as being mild, moderate or severe:
mild: < 4 stools/day, only a small amount of blood
moderate: 4-6 stools/day, varying amounts of blood, no systemic upset
severe: >6 bloody stools per day + features of systemic upset (pyrexia, tachycardia, anaemia, raised inflammatory markers)
What is Peutz-Jegher’s Syndrome?
aut dom condition
Features:
hamartomatous polyps in the gastronintestinal tract (mainly small bowel)
- small bowel obstruction is a common presenting complaint, often due to intussusception
- gastrointestinal bleeding
pigmented lesions on lips, oral mucosa, face, palms and soles
50% will die from another GIT cancer by age 60
Which drugs can cause cholestasis?
The following drugs tend to cause cholestasis (+/- hepatitis):
- COCP
- Abx: flucloxacillin, co-amoxiclav, erythromycin*
- anabolic steroids, testosterones
- phenothiazines: chlorpromazine, prochlorperazine
- sulphonylureas: gliclazide
- fibrates
- rare reported causes: nifedipine
What is Courvoisier’s law?
A palpable, non tender, enlarged gallbladder accompanied with painless jaundice is unlikely to be due to gallstones. Instead consider malignancy
