Celiac Disease

Question 1

What is Celiac disease?

Answer 1

an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals

Question 2

Time Of Presentation

Answer 2

within a few months to years of starting a diet that contains gluten.
So one can’t get celiac disease before age of 4 months.

Most common age of presentation is 6 – 24 months.

Question 3

Sources of Gluten

Answer 3

wheat, rye, and barley/playdough/lipstick

Question 4

Pathogenesis:

Answer 4

1) Ingestion of these proteins by susceptible individuals causes immune-mediated mucosal inflammation of the proximal small intestine, with villous atrophy and crypt hyperplasia.
2) The immune response is mediated by gliadin-reactive T cells, IL-15.

Question 5

Risk factors:

Answer 5

1) Genetic factors
2) Autoimmunity
3) Feeding practices in infancy and early childhood
4) Additional trigger factors

Question 6

Genetic factors

Answer 6

More than 99 percent of individuals with celiac disease have HLA DR3-DQ2 and/or DR4-DQ8
Homo-zygotes for DR3-DQ2 are at the highest risk for celiac disease

Question 7

Autoimmunity

Answer 7

• Celiac disease is associated with a number of autoimmune disorders, including type 1 diabetes mellitus and autoimmune thyroid disease
• IgA-antibodies against endomysium and the endomysial autoantigen tissue transglutaminase (tTG) are highly sensitive and specific

Question 8

Feeding practices in infancy and early childhood

Answer 8

Timing of gluten introduction
Quantity of gluten exposure
Cow’s milk protein

Question 9

Additional trigger factors

Answer 9

Prior intestinal infections, and, in particular, infection with rotavirus or enterovirus

Question 10

High-risk groups

Answer 10

●First- and second-degree relatives of patients with celiac disease

●Down syndrome

●Type 1 diabetes

●Selective immunoglobulin A (IgA) deficiency

●Autoimmune thyroiditis

●Turner syndrome

●Williams syndrome

●Juvenile chronic arthritis

Question 11

Clinical Manifestations

Answer 11

• Gastrointestinal (“classical”)
• Non-gastrointestinal ( “atypical”)
• Asymptomatic

Question 12

Gastrointestinal Manifestations

Answer 12

• Chronic or recurrent diarrhea
• Abdominal distension
• Anorexia
• Failure to thrive or weight loss
• Abdominal pain
• Vomiting
• Constipation
• Irritability
Rarely: Celiac crisis

Question 13

Gastrointestinal Manifestations (“Classic”)
Most common age of presentation

Answer 13

6-24 months

Question 14

Most common age of presentation for Non Gastrointestinal Manifestations

Answer 14

older child to adult

Question 15

Non Gastrointestinal Manifestations

Answer 15

• Dermatitis Herpetiformis
• Dental enamel hypoplasia of permanent teeth
• Osteopenia /Osteoporosis
• Short Stature
• Delayed Puberty
• Iron-deficient anemia resistant to oral Fe
• Hepatitis
• Arthritis
• Epilepsy with occipital calcifications

Question 16

Diagnosis Serology:

Answer 16

•Anti-gliadin antibodies AGA (IgA and IgG) have poor
sensitivity and specificity.

•Anti-tissue transglutaminase antibody (tTG) and/or antiendomysial
antibody (EMA); very high sensitivity and specificity,
except in patients with IgA deficiency

•HLA typing

Question 17

Diagnosis Endoscopy:

Answer 17

may show scalloping/ nodularity or it may me normal

Question 18

Diagnosis Biopsy:

Answer 18

the gold standard.

• Villous atrophy: blunting/shortening of the villi.
• Infiltrative → hyperplastic (hyperplasia of the crypts) → flat destructive.
• Intraepithelial lymphocytes ↑ in number.

Question 19

Treatment

Answer 19

• Adherence to a strict gluten-free diet results in resolution of symptoms and histologic abnormalities and is the recommended treatment
• Consultation with an experienced dietician is often beneficial to the family
• You have to screen siblings

Question 20

Asymptomatic Silent

Answer 20

No or minimal symptoms, “damaged” mucosa and

positive serology

Question 21

Asymptomatic Latent:

Answer 21

• No symptoms, normal mucosa
• May show positive serology
• These individuals, given the “right” circumstances, will develop at some point in time mucosal changes (± symptoms) e.g DM pts

Question 22

Bone Disease in Celiac Disease

Answer 22

• Arthritis
• Osteoporosis
• Osteopenia
• Osteomalacia
• Rickets

Question 23

Lactose Intolerance & Celiac Disease: Incidence

Answer 23

• Secondary lactase deficiency is estimated to be 20-40%
• Increasing lactose Intolerance with delayed diagnosis
• Increased incidence in patients with GI symptoms in Celiac Disease
• Decrease calcium and vitamin D intake in lactose intolerance