Pathologies

Question 1

pathophysiology of coeliac’s disease

Answer 1

autoimmune condition
exposure to gluten causes an autoimmune reaction which results in inflammation in the small bowel, particularly the jejunum

auto-antibodies target the epithelial cells of the intestine and lead to inflammation, resulting in intestinal atrophy and malabsorption

Question 2

blood tests for coeliac’s disease

Answer 2

anti-TTG and anti-endomysial
important to test for total immunoglobulin A levels as the above are IgA
If total IgA is low, coeliac’s test will come back as negative even if they have coeliac’s disease

Question 3

what condition normally indicates a coeliac’s test

Answer 3

T1DM

Question 4

complications of untreated coeliac’s disease

Answer 4

hyposplenism 
deficiencies e.g. iron, folate, B12
lymphoma
oesophageal cancer
sub-fertility 
osteoporosis, osteomalacia

Question 5

what is hereditary haemochromatosis

Answer 5

autosomal recessive condition that results in excessive total body iron and deposition of iron in tissues

due to a mutation in the HFE gene on chromosome 6

Question 6

pathophysiology of primary biliary cirrhosis (PBC)

Answer 6

immune system attacks the small bile ducts in the liver, with the intralobar ducts first to be affected (canals of Hering)
this causes obstruction and ultimately cholestasis, which can result in fibrosis, cirrhosis, and liver failure

bile acids, bilirubin and cholesterol build up and back flow into the blood
this causes itching, jaundice, and xanthelasma
** xanthomas are large nodular deposits in skin and tendons

as bile acids have a role in the digestion of fats, this results in pale and loose stools

Question 7

associations of primary biliary cirrhosis

Answer 7

other autoimmune conditions e.g. T1DM, thyroid conditions

rheumatological (Sjogren’s**, RA, systemic sclerosis)