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.
What is the role of a dietitian in managing coeliac disease?
To provide education and support for maintaining a gluten-free diet.
How often should patients with coeliac disease have follow-up appointments?
Regularly, to monitor adherence to the diet, symptom resolution, and to screen for complications.
What vaccinations are recommended for patients with coeliac disease?
Pneumococcal vaccine due to the risk of hyposplenism.
Can coeliac disease present asymptomatically?
Yes, some individuals may be asymptomatic but still at risk for complications.
What is the significance of dermatitis herpetiformis in coeliac disease?
It is a skin manifestation of coeliac disease, presenting as itchy, blistering skin lesions.
Is there a genetic test available for coeliac disease?
HLA DQ2/DQ8 testing can be used to rule out coeliac disease if negative, but a positive result is not diagnostic.
What is the importance of family screening in coeliac disease?
First-degree relatives have an increased risk and may benefit from screening.
How does coeliac disease affect pregnancy?
It can lead to complications such as infertility, miscarriage, and low birth weight if untreated.
What is the relationship between coeliac disease and other autoimmune conditions?
Coeliac disease is associated with an increased prevalence of other autoimmune disorders.
Can a gluten-free diet lead to nutritional deficiencies?
Yes, if not well-balanced, it can result in deficiencies of fibre, iron, calcium, and B vitamins.
What is refractory coeliac disease?
A rare condition where symptoms persist despite a strict gluten-free diet, requiring further medical evaluation.
How does coeliac disease increase the risk of osteoporosis?
Malabsorption of calcium and vitamin D leads to decreased bone mineral density.
What is the role of serological testing in monitoring coeliac disease?
To assess adherence to a gluten-free diet and detect inadvertent gluten exposure.
Can coeliac disease develop later in life?
Yes, it can be diagnosed at any age, including in the elderly.
What is the prevalence of coeliac disease in patients with IgA deficiency?
Approximately 7%.
How does coeliac disease lead to iron deficiency anaemia?
Malabsorption of iron in the damaged proximal small intestine.
What is the significance of HLA DQ2/DQ8 in coeliac disease?
Presence is necessary but not sufficient for the development of the disease; absence makes the diagnosis unlikely.
Can oats be included in a gluten-free diet for coeliac patients?
Pure, uncontaminated oats are tolerated by most, but some may still react; monitoring is advised.
What psychological impacts can coeliac disease have?
Anxiety and depression due to chronic illness and dietary restrictions.
How does coeliac disease affect children’s growth?
Malabsorption can lead to failure to thrive and delayed puberty.
What is the role of endoscopy in coeliac disease diagnosis?
To obtain duodenal biopsies for histological confirmation.
Can coeliac disease be cured?
There is no cure, but a strict gluten-free diet can effectively manage symptoms and prevent complications.
What is the relationship between coeliac disease and lactose intolerance?
Damage to the intestinal lining can lead to secondary lactose intolerance, which may improve with mucosal healing.
How does coeliac disease affect dental health?
It can cause dental enamel defects, particularly in children.
What is the Marsh classification?
A system used to describe the histological findings in coeliac disease biopsies.