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