Celiac Disease

Question 1

What are 2 strong gene associations with celiac?

Answer 1

HLA DQ2 and DQ8

Question 2

What is the pathogenesis of celiac disease?

Answer 2

Tissue transglutamase enzyme deaminates gluten to glutamic acid. This increases binding of gluten peptides to HLA DQ2 and 8 which increases t-cell stimulation

Question 3

What is the prevalence of celiac disease?

Answer 3

0.3-1%

Question 4

What are some clinical features of celiac disease?

Answer 4

Diarrhea, foul smelling floaty stools
Steatorrhea, flatulence
Growth failure, weight loss
Anaemia, neurological disorders from b vitamin deficiencies

But most present sub clinically
Fatigue, anaemia
Raised transaminases

Question 5

What are some non-gastrointestinal manifestations of celiac disease?

Answer 5

Dermatitis herpetoformis
Iron deficiency
Osteoporosis, osteopenia
Hyposplenism

Question 6

What cancers are celiac disease prone to?

Answer 6

Non Hodgkin’s lymphoma
Gastro-intestinal malignancies (carcinoid, GIST, adeno carcinoma)

Lower risk of breast cancer

Question 7

What are some associated conditions with celiac?

Answer 7

Dermatitis herpetiformis
Type 1 diabetes
Autoimmune thyroiditis
Selective IgA deficiency
Down's syndrome
Liver disease (PBC, PSC, hepatitis)
GORD
IBD - common gene mutation IL23R
Reproductive issues
Sjogrens
Turners and Williams syndrome
Miagraines
Peripheral neuropathy
Juvenile idiopathic arthritis

Question 8

What is the risk of celiac in a first degree relative?

Answer 8

10-15%

Question 9

What is the involved in treatment for celiac disease?

Answer 9

Gluten free diet
MDT approach
Dietician
Vaccination - especially those with evidence of Hyposplenism
Treat vit def - A,D, E, B12, copper, zinc, iron studies, frolic acid, carotene

Question 10

What are causes of non-responders in celiac disease?

Answer 10

Intentional/unintentional ingestion of gluten
Concomitant lactulose intolerance
Small bowel overgrowth 
Pancreatic insufficiency
Refractory sprue

Question 11

What are the 2 types of refractory sprue?

Answer 11

Type 1 - normal population of intra-epithelial lymphocytes, good prognosis with steroids
Type 2 - pre-malignant population of lymphocytes, associated with enteropathy associated lymphoma, poor prognosis and also can develop collagenous sprue

Question 12

What is the preferred serological tests for celiac disease?

Answer 12

IgA tissue transglutaminase

IgA anti-endomysial antibodies

Question 13

What needs to be considered in testing IgA deficient patients?

Answer 13

Test IgG forms of antibodies instead of IgA as will give false negatives

Testing for IgG deaminated gliadin peptide antibodies are best in this situation (IgG tTG and IgG EMA are less sensitive)

Question 14

When should testing for celiac occur?

Answer 14

When gluten is being consumed, otherwise antibodies and histology normalizes and false negative results

Question 15

What are the serological markets of celiac?

Answer 15

IgA endomysial antibody
IgA tTG
IgG tTG
IgA deaminated gliadin peptide
IgG deaminated gliadin peptide

Note anti-gliadin antibodies are no longer used due to lower accuracy

Question 16

What are the most sensitive and specific markets for celiac?

Answer 16

IgA endomysial antibody

IgA tissue transglutaminase antibody

Question 17

Should patients with celiac serology and symptoms undergo endoscopy?

Answer 17

Yes to confirm diagnosis

Only situation when not is patients have skin biopsy proven dermatitis herpetiformis

Question 18

What are the findings typical of celiac on biopsy?

Answer 18

Atrophic duodenal mucosa
Macroscopic scalloping of folds
Increased epithelial lymphocytes
Villous atrophy
Crypt hyperplasia