Celiac Disease (CD) is a permanent, irreversible but treatable multifactorial disease triggered by the ingestion of gluten (a plant storage protein contained in wheat, barley and rye) in genetically predisposed individuals and resulting in an autoimmune small intestinal inflammation with systemic implications.

Celiac Disease (CD) is a permanent, irreversible but treatable multifactorial disease triggered by the ingestion of gluten (a plant storage protein contained in wheat, barley and rye) in genetically predisposed individuals and resulting in an autoimmune small intestinal inflammation with systemic implications.


Gluten is a heterogeneous molecule. The gluten fractions that are toxic to celiac patients are a mixture of alcohol-soluble proteins called gliadins. Gliadins are rich in glutamine and proline residues, which even the healthy human intestine cannot fully digest. As a result, intact gliadin peptides are left in the lumen, and some cross the intestinal barrier. These fragments come into contact with the intracellular enzyme tissue transglutaminase (tTG), which deamidates them, leading to a change in shape and increased negative charge. This creates peptides that can easily be captured by the HLA-DQ2 and/or DQ8 molecules expressed on the surface of the lamina propria-associated antigen-presenting cells (APCs) and are presented to CD4⁺ T cells triggering an inflammatory reaction [5].

Typical and atypical forms of Celiac Disease (from Ref. [7]).

Sign or symptom	Age most commonly involved
Typical Celiac Disease
Vomiting	Infancy
Anorexia	Infancy to early childhood
Failure to thrive	Infancy to early childhood
Diarrhea	All ages
Abdominal bloating	All ages
Abdominal pain	Child to adult
Constipation	Child to adult
Weight loss	Child to adult
Atypical Celiac Disease
Sad mood	Infancy to early childhood
Elevated AST, ALT	All ages
Fatigue	All ages
Delayed puberty	Adolescent
Short stature	Child to adult
Anemia	Child to adult
Dermatitis Herpetiformis	Adolescent to adult
Dental enamel defects	Child to adult
Oral aphthae	Child to adult
Arthritis	Child to adult
Osteopenia	Adolescent to adult
Osteoporosis	Adult
Unexplained infertility	Adult
Headaches/migraine	Adolescent to adult
Peripheral Neuropathy	Adult
Idiopathic seizures	Child to adult
Psychiatric disorders	Adolescent to adult

Individuals at increased risk for Celiac Disease (From Ref. [7]).

• Subjects with signs and symptoms of Table 1 otherwise unexplained

• First degree relatives of celiac patients

• Autoimmune conditions

◦ Type 1 diabetes

◦ Autoimmune thyroiditis

◦ Autoimmune hepatitis

◦ Addison disease

• Genetic disorders

◦ Down syndrome

◦ Turner syndrome

◦ Williams syndrome

◦ IgA deficiency The proposed diagnostic algorithm allowed skipping the duodenal biopsy under certain circumstances: namely, in children and teenagers showing a history and genetic asset compatible with CD, tTG-IgA levels >10 times the upper limit of normal and a positive titer of endomysial antibody (EMA) [11]. Recommendations for follow-up of celiac children. Test At diagnosis At 3–6 months At 1 year and yearly thereafter EMA ○ TTG-IgA ○ ○ ○ DGP-IgG ○ ○ ○ CBC ○ ○ ○ Fe studies ○ TSH + T4 ○ ○ Vitamin D ○ Dietitian review ○ ○ ○