GI Flashcards
What is haemochromatosis?
An iron storage disorder- deposition of iron in tissues
What is the inheritance of haemochromatosis?
Autosomal recessive mutation on the HFE gene on chromosome 6
When does haemochromatosis usually present?
Age > 40
later in females
Presentation of haemochromatosis
Chronic tiredness, joint pain, pigmentation (bronze), hair loss, ED, amenorrhoea, memory and mood problems
Investigations in haemochromatosis
High serum ferritin, transferrin saturation
Liver biopsy with Perl’s stain- iron concentration in parenchymal cells
Genetic testing
CT/MRI for iron deposits
Management of haemochromatosis
Venesection
Complications of haemochromatosis
- Type 1 diabetes
- Liver cirrhosis, HCC
- Cardiomyopathy
- Iron in pituitary + gonads- hypogonadism, infertility
- Hypothyroidism
- Pseudogout
What is Wilson’s disease?
Excessive accumulation of copper in the body
What is the pattern of inheritance of Wilson’s disease?
Autosomal recessive
Mutation of ‘Wilson disease protein’ on chromosome 13
Clinical features of Wilson’s disease
Hepatic- chronic hepatitis, liver cirrhosis
CNS- dysarthria, dystonia, Parkinsonism, depression, psychosis
Kayser-Fleischer rings
Haemolytic anaemia, renal tubular acidosis, osteopenia
What can be seen in the eyes in Wilson’s disease?
Kayser-Fleischer rings
Investigations in Wilson’s disease
Serum caeruloplasmin
24hr urine copper assay
Liver biopsy
Management of Wilson’s disease
Copper chelation- Penicillamine, Trientene
What is the aetiology of Alpha-1-Antitrypsin deficiency?
A1AT inhibits neutrophil elastase –> excessive protease enzymes –> liver cirrhosis and lung disease
What is the inheritance pattern of Alpha-1-Antitrypsin deficiency?
Autosomal recessive defect on chromosome 14
What are the 2 key clinical features in Alpha-1-Antitrypsin deficiency?
Liver cirrhosis
Pulmonary basal emphysema
What is found on liver biopsy in Alpha-1-Antitrypsin deficiency?
Acid-Schiff positive staining globules
Management of Alpha-1-Antitrypsin deficiency
Stop smoking
Manage symptoms
Organ transplant
What is the aetiology of Primary Biliary Cirrhosis?
Immune system attacks small bile ducts –> cholestasis –> fibrosis –> cirrhosis –> liver failure
–> decreased excretion of bile acids, bilirubin and cholesterol
Clinical features of Primary Biliary Cirrhosis
- Bile acids cause jaundice
- Bilirubin causes jaundice
- Cholesterol causes xanthelasma + CV disease
- GI disturbance, malabsorption, greasy stools
- Cirrhosis- ascites, splenomegaly, spider naevi
Investigations in Primary Biliary Cirrhosis
Raised ALP
Antimitochondrial antibodies
Liver biopsy to diagnose and stain
Management of Primary Biliary Cirrhosis
Ursodeoxycholic acid- reduces absorption of cholesterol
Cholestyramine- reduces absorption of bile acids
Liver transplant
Immunosuppression
What is the aetiology of Primary Sclerosing Cholangitis?
Intrahepatic/Extrahepatic ducts become strictured/fibrotic
- -> Obstruction to flow of bile out of liver and into intestines
- -> Hepatitis, Cirrhosis + Fibrosis
Risk factors for Primary Sclerosing Cholangitis
Ulcerative colitis
Male
Age 30-40
FH
Presentation of Primary Sclerosing Cholangitis
Jaundice RUQ pain Pruritus Fatigue Hepatomegaly
LFTs in Primary Sclerosing Cholangitis
ALP most deranged, raised bilirubin
Diagnosis of Primary Sclerosing Cholangitis
MRCP –> bile duct lesions/strictures
Management of Primary Sclerosing Cholangitis
Liver transplant curative
ERCP + stent
Ursodeoxycholic acid, Cholestyramine
Complications of Primary Sclerosing Cholangitis
Colorectal cancer
Cholangiocarcinoma
Cirrhosis
Fat-soluble vitamin deficiencies
How do you test for H pylori?
C13 urea breath test/Stool antigen test + CLO test
Management of H pylori
Triple therapy:
- PPI
- Amoxicillin
- Clarithromycin + Metronidazole
What is Achalasia?
Disorder of motility of lower oesophageal sphincter –> impaired peristalsis + fails to relax
Often due to an acquired aganglionic segment
Presentation of achalasia
Dysphagia, regurgitation, chest pain
CXR finding in achalasia
Dilated oeseophagus
Gold standard investigation in achalasia
Manometry
Finding on barium swallow in achalasia
Bird’s beak
Management of achalasia
CCB/Nitrates
Surgery
Causes of upper GI bleed
Peptic ulcer disease
Varices, Mallory-Weiss tear
Malignancy
Drugs
Investigation required in upper GI bleed
Endoscopy
What is a Mallory-Weiss tear?
Mucosal tear at the oesophago-gastric junction
Caused by persistent vomiting/wretching
Risk factors for Mallory-Weiss tear?
Alcohol, Bulimia, raised ICP, Gastroenteritis
What are oesophageal varices?
Dilated veins at junction between portal and systemic venous circulation
In distal oesophagus/proximal stomach
Risk factors for oesophageal varices
Portal hypertension from chronic liver disease
What score is used for mortality risk in GI bleed?
Rockall score
What are the 3 types of liver cancer?
Hepatocellular carcinoma (80%)
Cholangiocarcinoma
Mets
What are the common primary sites for liver mets?
GI, pancreas, breast, melanoma
Risk factors for Hepatocellular carcinoma
Hep B/C, Alcohol, NAFLD, chronic liver disease
Presentation of Hepatocellular carcinoma
Asymptomatic and presents late
Weight loss, abdo pain, anorexia, N&V, jaundice, pruritus
Tumour marker for Hepatocellular carcinoma
AFP
Management of HCC
Surgery
+ Sorafenib etc for viral hepatitis
Risk factors for Cholangiocarcinoma
Primary Sclerosing Cholangitis
Presentation of Cholangiocarcinoma
Painless jaundice
Tumour marker for Cholangiocarcinoma
Ca19-9
Investigations for Cholangiocarcinoma
Ca19-9
CT/MRI
ERCP
Management of Cholangiocarcinoma
Symptomatic management with bile duct stent
Surgery
What is peritonitis?
Inflammation of the peritoneum due to blood, air, bacteria or GI contents
Causes of peritonitis
AEIOU Peritoneum:
- Appendicitis
- Ectopic pregnancy
- Infection with TB
- Obstruction
- Ulcer
- Peritoneal dialysis
Aetiology of pancreatitis
Pancreatic enzymes destroy pancreas and it’s blood supply
Presentation of pancreatitis
N&V, epigastric pain radiating to back, relieved on sitting forwards, tachycardia
Signs on examination of pancreatitis
Cullen’s sign- superficial oedema and bruising around umbilicus
Grey-turner’s sign- bruising of flanks
Raised blood result in pancreatitis
Amylase
Management of pancreatitis
IV fluids
pain relief
Blood derangements in alcoholic liver disease
Raised MCV
LFT: Raised AST, ALT, GGT, later on ALP, Low albumin, Raised bilirubin
Clotting: Raised PT
Complications of alcohol
Alcoholic liver disease, cirrhosis and HCC Alcohol dependence and withdrawal Wernicke-Korsakoff syndrome Pancreatitis Alcoholic cardiomyopathy
Presentation of alcohol withdrawal
6-12hrs: tremor, sweating, headache, craving, anxiety
12-24hrs: hallucinations
24-48hrs: seizures
24-72hrs: delirium tremens
Management of alcohol withdrawal
Benzodiazepine- Chlordiazepoxide 5-7 days
IV B vitamins- Pabrinex
What is the aetiology of delirium tremens?
Chronic alcohol use –> GABA system up-regulated + glutamate system down-regulated –> opposite when alcohol removed –> excess adrenergic activity
Presentation of delirium tremens
Acute confusion, agitation, delusions, hallucinations, tremor, tachycardia, hypertension, hyperthermia, ataxia, arrhythmias
Aetiology of Wernicke-Korsakoff syndrome
Thiamine deficiency
Presentation of Wernicke’s encephalopathy
Confusion, oculomotor disturbance, ataxia
Presentation of Korsakoff’s syndrome
Memory impairment, behavioural changes
Causes of liver cirrhosis
Alcoholic liver disease, NAFLD, Hep B/C
Presentation of liver cirrhosis
Jaundice, hepatosplenomegaly, spider naevi, palmar erythema, gynaecomastia, bruising, ascites
Investigations in liver cirrhosis
USS Fibroscan for transient elastography
Liver biopsy confirms diagnosis
Screened for HCC with AFP and USS every 6mth
Scoring systems for Liver cirrhosis
Child-Pugh score A, B, C for severity
MELD score for mortality
Management of liver cirrhosis
High protein low sodium diet
Propranolol reduces portal hypertension
Liver transplant
Complications of liver cirrhosis
Malnutrition, portal hypertension, varices, ascites, spontaneous bacterial peritonitis, hepatorenal syndrome, hepatic encephalopathy, HCC
Stages of NAFLD
- NAFLD
- Non-alcoholic steatohepatitis
- Fibrosis
- Cirrhosis
Risk factors for NAFLD
Obesity, T2DM, hypercholesterolaemia, age, smoking, hypertension
What is the aetiology of Meckel’s diverticulum?
Vestigial remnant of vitello-intestinal duct at distal ileum
Clinical features of Meckel’s diverticulum
Asymptomatic/haemorrhage/obstruction
Aetiology of Acute Mesenteric Ischaemia
Embolus/Thrombosis reduces blood flow to intestine –> bacterial translocation –> systemic inflammatory response
Presentation of acute mesenteric ischaemia
Severe, colicky, poorly localised pain
No real tenderness/peritonitis
How is acute mesenteric ischaemia diagnosed?
CT Angiography
Management of acute mesenteric ischaemia
O2, IV fluids
Papverine to relieve spasm
IV Unfractionated Heparin/Surgical angioplasty