Coeliac Disease Flashcards
Describe a typical presentation of coeliac disease
Long history of progressive fatigue, chronic diarrhoea, bloating, pale and possible short term history of weight loss
What kind of murmur might you hear due to anaemia and low MCV?
Ejection systolic murmur bc blood is more dilute
What would be low on the blood test in someone with coeliac disease?
Hb, MCV, B12, folate, iron
What type of anaemia would you normally expect with low folate and B12?
Macrocytic anaemia
What does low MCV indicate?
Microcytic anaemia
What is microcytic anaemia usually caused by?
Low iron
What are the differential diagnoses for coeliac disease?
- 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
What is a key feature of ulcerative colitis?
Crypt abscesses
What investigations might you do other than blood tests to test for coeliac disease?
- Stool MCS - stool culture would be negative (excludes gastroenteritis)
- Coeliac serology (endomysial antibody) - positive
- Duodenal biopsy
What does ingesting gluten trigger in those with coeliac disease?
- Mucosal inflammation
- Crypt hyperplasia
- Villous atrophy (flattened)
What are features of coeliac disease?
- Non specific GI symptoms
- Malabsorption leading to diarrhoea and nutritional deficiencies
What can nutritional deficiencies lead to in coeliac disease?
- Anaemia
- Osteoporosis (metabolic bone disease)
- Vitamin deficiencies
What other diseases is coeliac associated with?
Other autoimmune conditions e.g. T1D, RA, thyroid
What is the treatment for coeliac disease?
Strict gluten free diet (+ supplements and dietary support)
What can happen with a strict GFD?
Villous atrophy can reverse
What are rare cases of coeliac disease called where GFD doesn’t help?
Refractory
What two genes do patients with CD carry?
HLA-DQ2 or DQ8 (can be carrier of gene without CD) - gene is switched on at some point in life
What is the gold standard for diagnosis of CD and why?
OGD (oesophageo-gastroduodenoscopy) and duodenal biopsies
What will you see on a duodenal biopsy in CD?
Increased intraepithelial lymphocytes (IEL) > 30, crypt hyperplasia and villous atrophy
What does a duodenum look like at Marsh 1 classification?
IEL increased, crypts and villi normal
What does a duodenum look like at Marsh 2 classification?
IEL increased, crypt hyperplasia, normal villi
What does a duodenum look like at Marsh 3 classification?
IEL increased, crypt hyperplasia, villous atrophy (a) mild, b) subtotal, c) total)
What does a duodenum look like at Marsh 4 classification?
Total mucosal hypoplasia (rare) - completely flat
What Marsh classification is typical for coeliac disease and is the stage at which it is diagnosed?
Marsh 3
At what Marsh stage does coeliac start but could be anything?
Marsh 2
What are GI features of CD?
- Diarrhoea
- Flatulence
- Abdominal cramps
- Nutrient deficiency
- Weight loss
- Abnormal liver enzymes
- Rare = ulcerative jejunitis, enteropathy associated T cell lymphoma (EATL)
What are haematological features of CD?
- Anaemia
- Hyposplenism (increased risk of bacterial pneumonia)
- Bleeding disorders
What are musculoskeletal features of CD?
- Osteopenia and osteoporosis (vitamin D deficiency)
- Stunted growth in children
- Vitamin D deficiency and hypocalcaemia
What are skin features of CD?
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
What are neurological features of CD?
- Muscle weakness
- Paraesthesia and ataxia
- Seizures (may occur secondary to cerebral calcification) and confusion - goes away with GFD
What are hormonal features of CD?
- Amenorrhoea
- Infertility
What might be raised even if biopsy is negative?
Serology
Why might you repeat a biopsy in a few years if it was negative after positive serology?
Bc may have started immune action but effects haven’t taken place yet
What will serology tests be positive for in CD?
IgA TTG or EEA (with IgA levels) or IgG TTG
What is a key feature of Crohn’s disease?
Granuloma
What is a key feature of microscopic colitis?
Submucosal basement membrane thickening
What does protein losing enteropathy cause?
Diarrhoea and symptoms of malabsorption
What can SCID cause?
Villous atrophy without any other signs of coeliac disease
What is coeliac disease?
An autoimmune disorder where the body forms antibodies against gliadin peptides which lead to gastro-mucosal damage and destruction
