Stat Consult: Celiac disease

Description 


• 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


Epidemiology


• 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)


Causes 


• Thought to be attributable to 


            - Genetics

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

            - Immune reaction (antibody to gluten/gliadin)


Pathogenesis


• 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


Complications 


• 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


History


• Chronic diarrhea

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

• Abdominal bloating and pain 

• Vomiting and weight loss 

• Weakness, fatigue