• Malabsorption syndrome related to immune reaction to gluten in diet. Also referred to as celiac sprue or gluten intolerance.

ICD-9 codes 

  • 579.0 celiac disease

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  • Celiac disease may be more common than recognized.

  • Almost 1% of the Western population is estimated to have celiac disease.

  • Peak incidence occurs in adults who are aged 40-50 years.

  • Celiac disease is more common in women than in men (3.33:1)


  • Thought to be attributable to 

            – Genetics

            – Toxic effect of gluten/gliadin (gliadin is a glycoprotein component of gluten)

            – Immune reaction (antibody to gluten/gliadin)


  • Gluten is found in most food products that contain wheat, barley, and rye, so it is widely prevalent in typical diets.

  • Effects on intestinal mucosa

            – Villi become blunted or flat

            – Crypts hypertrophy

            – Increased numbers of intraepithelial lymphocytes, plasma cells, and lymphocytes in lamina propria

Risk factors 

  • Family history of celiac disease

  • Diabetes mellitus type 1


  • Collagenous sprue

  • Intestinal ulcers or strictures

  • Nutritional complications 

            – Malabsorption

            – Vitamin D deficiency

            – Osteomalacia/rickets
: Short stature; iron-resistant anemia

  • Delayed puberty 

  • Low bone mineral density and bone mineral content 

  • Malignancy (e.g. gastrointestinal cancer, non-Hogkin lymphoma)

Associated conditions 

  • Dermatologic conditions (e.g. dermatitis herpetiformis, xerosis, keratosis pilaris)

  • Immunologic conditions

    – Immunoglobulin (Ig)A deficiency

    – Common variable immunodeficiency

  • Rheumatologic conditions

    – Sjögren syndrome 

    – Rheumatoid arthritis 

  • Gastrointestinal conditions

    – Esophagitis

    – Microscopic colitis and irritable bowel syndrome

    – Association between celiac disease and primary biliary cirrhosis is controversial.

  • Endocrine conditions

    – Thyroid disease in children

    – Osteoporosis

    – Diabetes mellitus type 1

  • Neurologic disorders (e.g. hypotonia, developmental delay, learning disorders, headache, attention-deficit hyperactivity disorder)

  • Down syndrome

  • IgA nephropathy 

  • Social phobia and depression


  • Chronic diarrhea

  • Foul-smelling stools (pale, bulky, frothy, floating)

  • Abdominal bloating and pain 

  • Vomiting and weight loss 

  • Weakness, fatigue