Coeliac Disease

(Coleiac Sprue, Gluten Intolerance)

<Presentations>

<Index>

 

 

Definition

- Immune mediated reaction (AID to foreign Ag) to gluten in the small intestine causing chronic inflammation & reducing absorptive area

- Gluten (Gliadin) = protein found in wheat, rye, barely & oats

 

Features

- 1:100 Australians

-  One of most common chronic diseases

-  75% of these unaware of Dx

-  One of most common under Dx diseases

- Clinically 1:300-1000

- Villous atrophy of small intestine mucosa

-  Malabsorption

- Genetic link: HLA DQ2, DQ8

-  1st degree releative 10% chance

- Uncommon in Asian & Aboriginal

- Females +/- > males

- Increased incidence in Downs (3-12%), Turners (2-10%), DM1 (2-5%)

 

Triggers

- Sx

- Pregnancy or delivery

- Viral infection

- Emotional stress

 

Associated S/S

- Diarrhoea 45-85%

-  Watery or semi-formed

-  Light tan or grey

-  Oily or frothy

-  Foul odour

-  Steatorrhoea

- Constipation, flatulence 28%, borborygmus 35-70%

- Abdominal pain or stomach cramps 35-40%

- Protuberant tympanic abdomen

- Nausea + vomiting

- Weight loss 45%

- Fatigue, weakness, lethargy 80%

- Cardiomyopathy

- Children = above +

-  FTT

-  Delayed puberty

-  Tiredness

-  Irritability

-  Buttock wasting

- Malnutrition

- Anaemia

-  10-15%

-  IDA or Megaloblastic anaemia (folate +/- B12)

- Osteoporosis

- Bleeding diathesis: vit K def

- Depression

- Dermatitis herpetiformis 10-20%

- Alopecia

- Infertility & miscarriage

- Increased risk of Ca

-  Small intestine lymphoma

-  Adenocarcinoma

- Other AID

-  DM1, thyroiditis, pernicious anaemia

 

DDx

- IBS

 

Ix

- U&E: malnutrition, metabolic acidosis

- FBE: RBC: Anaemia (IDA or Megaloblastic)

- Co-ags: PT: bleeding diathesis: vit K def

- Serology (Antibodies)

-  Seronegative 5-9%

-  Total IgA

-  Selective IgA deficiency more common in coleiac disease causing fale negatives

-  If deficient use TTG IgG & EMA IgG

-  Tissue Transglutaminase (TTG) IgA

-  Very spec

-  Not Dx in isolation, requires biopsy

-  Anti-Gliadin IgA & IgG

-  Endomysial IgA (EMA)

-  80-90% sens + spec in untreated Coeliacs

-  Often undetectable after 6-12/12 gluten withdrawal

- If Serology –ve & clinically suspicious consider HLA DQ2/DQ8

-  If +ve: Biopsy

-  If –ve: Coelic v. unlikely

- Gastroscopy

-  Gold standard for Dx

-  6+ distal duodenal biopsies

-  Mucosal fold scalloping

-  Reduced mucosal folds

-  Mosaic pattern

-  Histology

-   Requires gluten in diet to determine effect

-   Staged 0-4 by Marsh

-   Villous atrophy

-   Decreased villous: crypt ratio < 4:1

-   Hyperplastic crypts

-  Follow up post gluten free diet shows normalisation

 

 

 

 

- On confirmed Dx

-  BMD: osteopaenia, osteoporosis

-  FBE: Anaemia + Iron studies, B12, Folate

-  LFTs

-  TSH, Ca, PO4, Vit D

 

Mx

- Gluten free diet

-  Life long

-  Avoid bread, cakes, pasta

-  Ingredient aware

-  Dietician

- Corticosteroids if not improving from diet

-  Must DDx Lymphoma