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Paediatrics > Coeliac Disease > Flashcards

Coeliac Disease Flashcards

1
Q

What is coeliac disease?

A

An autoimmune disorder characterized by gluten sensitivity, leading to chronic inflammation of the small bowel and malabsorption.

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2
Q

What percentage of the UK population is affected by coeliac disease?

A

Approximately 1%.

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3
Q

Which gender is more commonly affected by coeliac disease?

A

Women, accounting for around two-thirds of cases.

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4
Q

At what ages are the peaks for coeliac disease diagnosis?

A

Infancy (when solid foods are introduced) and between 40-50 years.

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5
Q

What component of gluten triggers the immune response in coeliac disease?

A

Gliadin.

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6
Q

Which HLA types are almost all coeliac disease patients positive for?

A

HLA DQ2 or DQ8.

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7
Q

What is the genetic risk of coeliac disease if a monozygotic twin is affected?

A

Approximately 70%.

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8
Q

Name two autoimmune conditions associated with an increased risk of coeliac disease.

A

Autoimmune thyroid disease and type 1 diabetes.

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9
Q

List two genetic syndromes associated with coeliac disease.

A

Down’s syndrome and Turner’s syndrome.

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10
Q

What is the prevalence of coeliac disease in patients with type 1 diabetes?

A

Approximately 8%.

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11
Q

What gastrointestinal symptoms might children with coeliac disease present with?

A

Chronic diarrhoea, constipation, abdominal bloating, and failure to thrive.

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12
Q

What are common symptoms of coeliac disease in adults?

A

Long-standing diarrhoea, nausea, vomiting, fatigue (often with iron-deficiency anaemia), and weight loss.

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13
Q

What skin condition is associated with coeliac disease?

A

Dermatitis herpetiformis.

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14
Q

What are common examination findings in children with coeliac disease?

A

Failure to thrive, abdominal distension, muscle wasting (particularly of the buttocks), and signs of anaemia.

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15
Q

What are common examination findings in adults with coeliac disease?

A

Signs of anaemia, mouth ulcers, weight loss, abdominal pain, and dermatitis herpetiformis.

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16
Q

What are extra-intestinal manifestations of coeliac disease?

A

Arthritis, osteoporosis/osteopenia, infertility, ataxia, epilepsy, anxiety, and depression.

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17
Q

What initial blood tests are recommended for suspected coeliac disease?

A

Total IgA and IgA tissue transglutaminase (tTG) antibodies.

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18
Q

Why is it important to measure total IgA in suspected coeliac disease?

A

To identify IgA deficiency, which can lead to false-negative tTG antibody results.

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19
Q

What is the next step if IgA tTG antibodies are weakly positive or IgA deficient?

A

Measure IgG-based tests such as IgG deamidated gliadin peptide (DGP) antibodies.

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20
Q

What is the definitive diagnostic procedure for coeliac disease?

A

Duodenal biopsy obtained via upper gastrointestinal endoscopy.

21
Q

What histological findings are characteristic of coeliac disease?

A

Villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.

22
Q

What is the mainstay of management for coeliac disease?

A

A lifelong strict gluten-free diet.

23
Q

Why is adherence to a gluten-free diet crucial in coeliac disease?

A

To prevent symptoms and reduce the risk of complications such as osteoporosis and small bowel lymphoma.

24
Q

What complications can arise from untreated coeliac disease?

A

Hyposplenism, iron deficiency anaemia, malnutrition, osteoporosis, small bowel T-cell lymphoma, and vitamin B12 and folate deficiency.

25
Q

What is the role of a dietitian in managing coeliac disease?

A

To provide education and support for maintaining a gluten-free diet.

26
Q

How often should patients with coeliac disease have follow-up appointments?

A

Regularly, to monitor adherence to the diet, symptom resolution, and to screen for complications.

27
Q

What vaccinations are recommended for patients with coeliac disease?

A

Pneumococcal vaccine due to the risk of hyposplenism.

28
Q

Can coeliac disease present asymptomatically?

A

Yes, some individuals may be asymptomatic but still at risk for complications.

29
Q

What is the significance of dermatitis herpetiformis in coeliac disease?

A

It is a skin manifestation of coeliac disease, presenting as itchy, blistering skin lesions.

30
Q

Is there a genetic test available for coeliac disease?

A

HLA DQ2/DQ8 testing can be used to rule out coeliac disease if negative, but a positive result is not diagnostic.

31
Q

What is the importance of family screening in coeliac disease?

A

First-degree relatives have an increased risk and may benefit from screening.

32
Q

How does coeliac disease affect pregnancy?

A

It can lead to complications such as infertility, miscarriage, and low birth weight if untreated.

33
Q

What is the relationship between coeliac disease and other autoimmune conditions?

A

Coeliac disease is associated with an increased prevalence of other autoimmune disorders.

34
Q

Can a gluten-free diet lead to nutritional deficiencies?

A

Yes, if not well-balanced, it can result in deficiencies of fibre, iron, calcium, and B vitamins.

35
Q

What is refractory coeliac disease?

A

A rare condition where symptoms persist despite a strict gluten-free diet, requiring further medical evaluation.

36
Q

How does coeliac disease increase the risk of osteoporosis?

A

Malabsorption of calcium and vitamin D leads to decreased bone mineral density.

37
Q

What is the role of serological testing in monitoring coeliac disease?

A

To assess adherence to a gluten-free diet and detect inadvertent gluten exposure.

38
Q

Can coeliac disease develop later in life?

A

Yes, it can be diagnosed at any age, including in the elderly.

39
Q

What is the prevalence of coeliac disease in patients with IgA deficiency?

A

Approximately 7%.

40
Q

How does coeliac disease lead to iron deficiency anaemia?

A

Malabsorption of iron in the damaged proximal small intestine.

41
Q

What is the significance of HLA DQ2/DQ8 in coeliac disease?

A

Presence is necessary but not sufficient for the development of the disease; absence makes the diagnosis unlikely.

42
Q

Can oats be included in a gluten-free diet for coeliac patients?

A

Pure, uncontaminated oats are tolerated by most, but some may still react; monitoring is advised.

43
Q

What psychological impacts can coeliac disease have?

A

Anxiety and depression due to chronic illness and dietary restrictions.

44
Q

How does coeliac disease affect children’s growth?

A

Malabsorption can lead to failure to thrive and delayed puberty.

45
Q

What is the role of endoscopy in coeliac disease diagnosis?

A

To obtain duodenal biopsies for histological confirmation.

46
Q

Can coeliac disease be cured?

A

There is no cure, but a strict gluten-free diet can effectively manage symptoms and prevent complications.

47
Q

What is the relationship between coeliac disease and lactose intolerance?

A

Damage to the intestinal lining can lead to secondary lactose intolerance, which may improve with mucosal healing.

48
Q

How does coeliac disease affect dental health?

A

It can cause dental enamel defects, particularly in children.

49
Q

What is the Marsh classification?

A

A system used to describe the histological findings in coeliac disease biopsies.

Paediatrics (9 decks)

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