Coeliac Disease

Question 1

Describe a typical presentation of coeliac disease

Answer 1

Long history of progressive fatigue, chronic diarrhoea, bloating, pale and possible short term history of weight loss

Question 2

What kind of murmur might you hear due to anaemia and low MCV?

Answer 2

Ejection systolic murmur bc blood is more dilute

Question 3

What would be low on the blood test in someone with coeliac disease?

Answer 3

Hb, MCV, B12, folate, iron

Question 4

What type of anaemia would you normally expect with low folate and B12?

Answer 4

Macrocytic anaemia

Question 5

What does low MCV indicate?

Answer 5

Microcytic anaemia

Question 6

What is microcytic anaemia usually caused by?

Answer 6

Low iron

Question 7

What are the differential diagnoses for coeliac disease?

Answer 7

• Anaemia secondary to peptic ulcer (GI bleed)
• Anaemia secondary to heavy periods
• Lack of dietary iron
• Anorexia nervosa (laxative abuse, eating disorder)
• IBS (but weight loss + anaemia so should exclude serious pathology)
• Gastroenteritis
• IBD
• Small bowel bacterial overgrowth
• Microscopic colitis
• Protein losing enteropathy
• SCID
• Malabsorption

Question 8

What is a key feature of ulcerative colitis?

Answer 8

Crypt abscesses

Question 9

What investigations might you do other than blood tests to test for coeliac disease?

Answer 9

• Stool MCS - stool culture would be negative (excludes gastroenteritis)
• Coeliac serology (endomysial antibody) - positive
• Duodenal biopsy

Question 10

What does ingesting gluten trigger in those with coeliac disease?

Answer 10

• Mucosal inflammation
• Crypt hyperplasia
• Villous atrophy (flattened)

Question 11

What are features of coeliac disease?

Answer 11

• Non specific GI symptoms

- Malabsorption leading to diarrhoea and nutritional deficiencies

Question 12

What can nutritional deficiencies lead to in coeliac disease?

Answer 12

• Anaemia
• Osteoporosis (metabolic bone disease)
• Vitamin deficiencies

Question 13

What other diseases is coeliac associated with?

Answer 13

Other autoimmune conditions e.g. T1D, RA, thyroid

Question 14

What is the treatment for coeliac disease?

Answer 14

Strict gluten free diet (+ supplements and dietary support)

Question 15

What can happen with a strict GFD?

Answer 15

Villous atrophy can reverse

Question 16

What are rare cases of coeliac disease called where GFD doesn’t help?

Answer 16

Refractory

Question 17

What two genes do patients with CD carry?

Answer 17

HLA-DQ2 or DQ8 (can be carrier of gene without CD) - gene is switched on at some point in life

Question 18

What is the gold standard for diagnosis of CD and why?

Answer 18

OGD (oesophageo-gastroduodenoscopy) and duodenal biopsies

Question 19

What will you see on a duodenal biopsy in CD?

Answer 19

Increased intraepithelial lymphocytes (IEL) > 30, crypt hyperplasia and villous atrophy

Question 20

What does a duodenum look like at Marsh 1 classification?

Answer 20

IEL increased, crypts and villi normal

Question 21

What does a duodenum look like at Marsh 2 classification?

Answer 21

IEL increased, crypt hyperplasia, normal villi

Question 22

What does a duodenum look like at Marsh 3 classification?

Answer 22

IEL increased, crypt hyperplasia, villous atrophy (a) mild, b) subtotal, c) total)

Question 23

What does a duodenum look like at Marsh 4 classification?

Answer 23

Total mucosal hypoplasia (rare) - completely flat

Question 24

What Marsh classification is typical for coeliac disease and is the stage at which it is diagnosed?

Answer 24

Marsh 3

Question 25

At what Marsh stage does coeliac start but could be anything?

Answer 25

Marsh 2

Question 26

What are GI features of CD?

Answer 26

• Diarrhoea
• Flatulence
• Abdominal cramps
• Nutrient deficiency
• Weight loss
• Abnormal liver enzymes
• Rare = ulcerative jejunitis, enteropathy associated T cell lymphoma (EATL)

Question 27

What are haematological features of CD?

Answer 27

• Anaemia
• Hyposplenism (increased risk of bacterial pneumonia)
• Bleeding disorders

Question 28

What are musculoskeletal features of CD?

Answer 28

• Osteopenia and osteoporosis (vitamin D deficiency)
• Stunted growth in children
• Vitamin D deficiency and hypocalcaemia

Question 29

What are skin features of CD?

Answer 29

Dermatitis herpetiformis - blistering intensely itchy rash on extensor surfaces, vesicles
- One of the most common presentations of skin coeliac, usually don’t have gut symptoms, with GFD symptoms go away

Question 30

What are neurological features of CD?

Answer 30

• Muscle weakness
• Paraesthesia and ataxia
• Seizures (may occur secondary to cerebral calcification) and confusion - goes away with GFD

Question 31

What are hormonal features of CD?

Answer 31

• Amenorrhoea

- Infertility

Question 32

What might be raised even if biopsy is negative?

Answer 32

Serology

Question 33

Why might you repeat a biopsy in a few years if it was negative after positive serology?

Answer 33

Bc may have started immune action but effects haven’t taken place yet

Question 34

What will serology tests be positive for in CD?

Answer 34

IgA TTG or EEA (with IgA levels) or IgG TTG

Question 35

What is a key feature of Crohn’s disease?

Answer 35

Granuloma

Question 36

What is a key feature of microscopic colitis?

Answer 36

Submucosal basement membrane thickening

Question 37

What does protein losing enteropathy cause?

Answer 37

Diarrhoea and symptoms of malabsorption

Question 38

What can SCID cause?

Answer 38

Villous atrophy without any other signs of coeliac disease

Question 39

What is coeliac disease?

Answer 39

An autoimmune disorder where the body forms antibodies against gliadin peptides which lead to gastro-mucosal damage and destruction