Coeliac Disease Flashcards
What is coeliac disease?
An autoimmune disorder characterized by gluten sensitivity, leading to chronic inflammation of the small bowel and malabsorption.
What percentage of the UK population is affected by coeliac disease?
Approximately 1%.
Which gender is more commonly affected by coeliac disease?
Women, accounting for around two-thirds of cases.
At what ages are the peaks for coeliac disease diagnosis?
Infancy (when solid foods are introduced) and between 40-50 years.
What component of gluten triggers the immune response in coeliac disease?
Gliadin.
Which HLA types are almost all coeliac disease patients positive for?
HLA DQ2 or DQ8.
What is the genetic risk of coeliac disease if a monozygotic twin is affected?
Approximately 70%.
Name two autoimmune conditions associated with an increased risk of coeliac disease.
Autoimmune thyroid disease and type 1 diabetes.
List two genetic syndromes associated with coeliac disease.
Down’s syndrome and Turner’s syndrome.
What is the prevalence of coeliac disease in patients with type 1 diabetes?
Approximately 8%.
What gastrointestinal symptoms might children with coeliac disease present with?
Chronic diarrhoea, constipation, abdominal bloating, and failure to thrive.
What are common symptoms of coeliac disease in adults?
Long-standing diarrhoea, nausea, vomiting, fatigue (often with iron-deficiency anaemia), and weight loss.
What skin condition is associated with coeliac disease?
Dermatitis herpetiformis.
What are common examination findings in children with coeliac disease?
Failure to thrive, abdominal distension, muscle wasting (particularly of the buttocks), and signs of anaemia.
What are common examination findings in adults with coeliac disease?
Signs of anaemia, mouth ulcers, weight loss, abdominal pain, and dermatitis herpetiformis.
What are extra-intestinal manifestations of coeliac disease?
Arthritis, osteoporosis/osteopenia, infertility, ataxia, epilepsy, anxiety, and depression.
What initial blood tests are recommended for suspected coeliac disease?
Total IgA and IgA tissue transglutaminase (tTG) antibodies.
Why is it important to measure total IgA in suspected coeliac disease?
To identify IgA deficiency, which can lead to false-negative tTG antibody results.
What is the next step if IgA tTG antibodies are weakly positive or IgA deficient?
Measure IgG-based tests such as IgG deamidated gliadin peptide (DGP) antibodies.
What is the definitive diagnostic procedure for coeliac disease?
Duodenal biopsy obtained via upper gastrointestinal endoscopy.
What histological findings are characteristic of coeliac disease?
Villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.
What is the mainstay of management for coeliac disease?
A lifelong strict gluten-free diet.
Why is adherence to a gluten-free diet crucial in coeliac disease?
To prevent symptoms and reduce the risk of complications such as osteoporosis and small bowel lymphoma.
What complications can arise from untreated coeliac disease?
Hyposplenism, iron deficiency anaemia, malnutrition, osteoporosis, small bowel T-cell lymphoma, and vitamin B12 and folate deficiency.