2.4 Coeliac disease Flashcards
define coeliac disease
An autoimmune disease of the small bowel characterised by a pathogenic response to tissue transglutaminase, triggered by ingestion of gliadin in susceptible (HLA-DQ2 or DQ8) individuals
What is the presentation of coeliac in children?
Growth failure
Diarrhoea
Abdominal distension
Vomiting
What can be the complications of undiagnosed coeliac?
Pubertal delay, short stature, anaemia, Rickets
What is the presentation of coeliac disease in adolescents?
Diarrhoea Abdominal symptoms Pain Hypertransaminasemia Mouth ulcers Arthralgia Tooth defects Behavioural change
What is the presentation of coeliac disease in adults?
Nocturnal diarrhoea Flatulence Weight loss Steatorrhoea Abdominal bloating and discomfort Fatigue Anaemia 50% do not have diarrhoea Fractures Infertility
What do you see histologically in coeliac disease?
There is damage to the small bowel mucosa resulting in loss of the surface villi and elongation of the crypts
What diseases are associted with coeliac?
Type 1 diabetes Addisons Hepatits Sjogren's syndrome IgA nephropathy Down syndrome Turner IgA deficiency Common variable immunodeficiency
What are the complications of coeliac?
Malabsorption problems: folate, iron, vitamin K, calcium, anaemia, coagulopathy, rickets/osteomalacia
Ulcerative jejunoilietis
Hyposplenism (atrophy of the spleen)
Malignancy
What pathology will you see with coeliac disease?
Intraepithelial lymphocytes and plasma cells
Intraepithelial CD8+ lymphocytes CD4+
Lamina propria inflammation with lymphocytes
Crypt hyperplasia
Villious atrophy
Small flat epithelial cells with intense inflammatory lymphocytic infiltrate in lamina propria, some inflammatory cells, small number of mononuclear cells
What is the histologic diagnosis?
Small bowel biopsy
Endoscope
Multiple proximal small bowel samples from distal duodenum
MUCOSAL VILLOUS ATROPHY
What is the marsh classification of coeliac disease?
1: normal mucosa
2: intraepithelial lymphocytes
3: intraepithelial lymphocytosis and crypthyperplasia
4: intraepithelial lymphocytosis, crypthyperplasia and villous atrophy
What is the gene associated with coeliac disease?
HLA-DQ2 and DQ8 - increased risk in homozygotes HLA DQ2 highest risk
What is the pathogenic response in coeliac disease?
The HLA Dq2 or DQ8 MHC class 2 bind to the gliadin specific T cell
