Gastroenterology Flashcards
Define coeliac disease
An autoimmune enteropathy of the small bowel characterised by mucosal inflammation on gluten exposure leading to malabsorption
What autoantibodies are associated with coeliac disease?
Anti-TTG (anti-tissue transglutaminase)
Anti-EMA (anti-endomysial)
Need to test for IgA levels
What part of the small bowel is particularly affected in coeliac disease?
Jejunum
What are the genetic associations of coeliac disease?
HLA DQ2
HLA DQ8
(associated with T1DM, thyroid disease, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis)
What are the symptoms of coeliac disease?
Asymptomatic Failure to thrive in young children Diarrhoea, steatorrhoea, bloating Fatigue Weight loss Mouth ulcers, angular stomatitis Anaemia - secondary due to iron, B12 and folate deficiency Dermatitis herpetiformis
What skin condition is associated with coeliac disease?
Dermatitis herpetiformis (itchy blistering skin rash typically on the abdomen)
What are the Ddx of coeliac disease?
IBS
IBD
Chronic infective gastroenteritis
Lactose intolerance
What is the gold standard investigation to confirm the diagnosis of coeliac disease?
Jejunum biopsy when having a gluten containing diet
Shows - subtotal villous atrophy, crypt hyperplasia, intra-epithelial lymphocytosis
What criteria is used in the assessment of jejunum biopsies in the diagnosis of coeliac disease?
Modified Marsh Criteria
What additional investigation should be performed in patients with a diagnosis of coeliac disease?
DEXA scan - calcium and vitamin D malabsorption leading to osteopenia
How is coeliac disease managed?
Total adherence to a gluten free diet
Iron, calcium, folate and vitamin B12 supplementation
Dapsone to improve dermatitis herpetiformis rash (will improve with adherence to gluten free diet)
Why is a 5 yearly pneumococcal vaccine recommended in people with coeliac disease?
Hyposplenism
What are complications of untreated coeliac disease?
Enteropathy-associated T-cell lymphoma (EATL) of the intestines
Non-Hodgkin lymphoma
Small bowel adenocarcinoma (rare)
Define chronic liver failure
Progressive destruction of the liver parenchyma over a period greater than 6 months leading to fibrosis and cirrhosis
What is the most common cause of chronic liver disease?
Alcohol
What other conditions are commonly associated with NAFLD?
T2DM
HTN
Obesity
Hyperlipidaemia
What ratio of AST:ALT is commonly seen in NAFLD
<1
Define haemochromatosis
Excessive iron absorption leading to iron deposition in the liver and other organs
What gene causes haemochromatosis
HFE gene - on chromosome 6
What are the effects of haemochromatosis
Liver cirrhosis Diabetes Skin discolouration Hypogonadism Arrhythmias Heart failure
Define Wilson disease
Autosomal recessive disorder leading to copper accumulation
What are the effects of Wilson disease
Liver cirrhosis
Neuropsychiatric symptoms - parkinsonism
Cardiomyopathy
Arrhythmias
What biochemistry is typical of Wilson’s disease
Low serum caeruloplasmin
High urinary copper
How is Wilson’s disease managed?
Copper chelators eg penicillamine
What antibody is associated with autoimmune hepatitis?
Anti-smooth muscle Abs
IgG usually also up
How is autoimmune hepatitis managed?
Prednisolone
AND/OR azathioprine
How can chronic liver disease manifest?
Fatigue
Encephalopathy
Hands - Dupuytren’s contracture, palmar erythema, leuconychia
Asterixis
Face - jaundice sclera, fetor hepaticus
Chest - spider naevi, gynaecomastia
Abdo - hepatomegaly, splenomegaly; ascites, caput medusa
Polyneuropathy
What are three scoring systems used in assessing chronic liver disease?
MELD (model of end-stage liver disease)
UKELD (UK model of end-stage liver disease)
Childs-Pugh
What parameters are considered in the MELD score for assessing chronic liver disease?
Bilirubin
Creatinine
INR
What parameters are considered in the UKMELD score for assessing chronic liver disease?
Bilirubin
Creatinine
INR
Sodium
What parameters are considered in the Child-Pugh score for assessing chronic liver disease?
Ascites Bilirubin Albumin PT Encephalopathy
What bloods are required in the initial management of chronic liver disease?
FBC
LFTs (can be normal in advanced disease)
Coag
U&Es
What tests of synthetic liver function?
PT
Albumin
Platelets
What tests are included in a liver screen?
Viral screen: Hep B, C, D and HIV Autoantibodies for PBC, PSC Serum immunoglobulins Iron studies and ferritin Copper and ceruloplasmin Anti-1 antitrypsin level
What imaging is useful in assessing a patient with chronic liver disease?
USS (+fibroscan)
CT
What investigation should all patients with chronic liver disease have?
Endoscopy - assess for oesophageal varices
What medication can be commenced for patients with oesophageal varices?
Non-selective beta blockers eg propanolol
What are the complications of chronic liver disease?
Variceal bleeding Ascites - SBP Encephalopathy Hepatorenal syndrome Hepatocellular carcinoma
What tumour marker is used in HCC?
Alpha-fetoprotein
What is the pathophysiology of Primary Biliary Cirrhosis?
Immune system attacks the small bile ducts –> cholestasis –> back pressure into the liver causing fibrosis, cirrhosis and liver failure
How does PBC present?
Fatigue Puritis GI disturbance and abdo pain Jaundice Pale, greasy stool Xanthoma and xanthelasma Signs of cirrhosis and liver failure
What are the associations of PBC?
Middle aged women
Other autoimmune disease
Rheumatoid conditions
What is the first liver enzyme to raise in PBC?
Alkaline phosphatase
What autoantibody is associated with PBC?
Anti-mitochondrial antibody
Other than raised alk phos and raised anti-mitochondrial antibody, what other blood tests might be raised in PBC?
Raised ESR
Raised IgM
What is used to diagnose and stage PBC?
Liver biopsy
How can PBC be treated?
Ursodeoxycholic acid - reduces intestinal absorption of cholesterol
Colestyramine
Liver transplant
Immunosuppression
How can PBC progress?
Advanced liver cirrhosis and portal hypertension
What are some complications associated with PBC?
Distal renal tubular acidosis
Hepatocellular carcinoma
What is primary sclerosing cholangitis?
Intrahepatic or extra hepatic ducts become strictured and fibrotic –> obstruction of flow of bile out of the liver and into the intestines
What condition is highly associated with PSC?
UC
What are the risk factors for PSC?
Male
30-40
UC
FHx
How can PSC present?
Jaundice Chronic RUQ pain Puritis fatigue Hepatomegaly
How is PSC diagnosed?
MRCP - bile duct lesions and strictures
What are the complications of PSC
Acute bacterial cholangitis Cholangiocarcinoma Colorectal cancer Cirrhosis and liver failure Biliary strictures Fat soluble vitamin deficiencies
How can PSC be managed?
Liver transplant ERCP - dilate and stent strictures Ursodeoxycholic acid Cholestyramine Monitoring for complications such as cholangiocarcinoma, cirrhosis and oesophageal varices