Celiac disease

Question 1

Celiac disease - overview

Answer 1

1. Def = enteropathy in which the gliadin fraction of gluten provokes a damaging immunological response in the proximal small intestinal mucosa
2. Villi become progressively shorter and then absent, leaving a flat mucosa
3. Differs from food allergies, which are mediated by IgE or IgG. Mechanism of innate immune activation not fully known
4. Gliadin present in wheat, barley, rye and oats (controversial)
5. Prevalence 1%, primarily in Caucasians

Question 2

Celiac disease - presentation

Answer 2

Early (may present at any age after starting solids containing gluten)

1. Pallor
2. Diarrhoea + pale, bulky, floating stools
3. Anorexia
4. FTT
5. Irritability

Later

1. Apathy + gross motor developmental delay
2. Ascites + peripheral oedema
3. Anaemia + specific nutritional disorders
4. Delayed puberty
5. Arthralgia + muscle wasting

(Can also have dermatitis herpetiformis = itchy papular vesicular eruption [blistering skin rash] symmetrically on extensor surfaces of elbows, knees, buttocks, sacrum, face, neck and trunk)

Question 3

Celiac disease - ix

Answer 3

1. Anti-TTG (serum tissue transglutaminase IgA antibody) = initial testing
2. Endoscopic small bowel biopsy of third part of duodenum = shows diffuse, subtotal villus atrophy, increased intraepithelial lymphocytes and crypt hyperplasia (will return to normal on gluten-free diet)
3. Other tests = FBE, iron studies, LFTs (often abnormal)

Dx = positive mucosal histology + full clinical recovery on gluten free diet +/- positive anti-TTG

Note: testing for anti-endomysium and anti-gliadin antibodies no longer recommended

Question 4

Celiac disease - mx

Answer 4

C - consultation with a skilled dietitian
E - education about the disease
L - lifelong adherence to a gluten-free diet
I - identification and tx of nutritional deficiencies; nutritional supplements may be required
A - access to an advocacy group
C - continuous long-term follow-up by a multidisciplinary team

Question 5

Celiac disease - prognosis (2)

Answer 5

1. Excellent if pt compliant with strict, life-long gluten-free diet
2. Possible increased risk of intestinal lymphoma if gluten is ingested, even in asymptomatic celiac disease

Question 6

Celiac disease - RF

Answer 6

1. Fhx
2. DS
3. T1DM
4. Selective IgA deficiency (why deficiency if disease is related to anti-TTG IgA?)
5. Autoimmune thyroiditis