Celiac disease (or celiac sprue) is an inherited autoimmune disorder that results from an inappropriate immune response to gluten, which is a protein found in wheat, rye, and barley, as well as oats that are contaminated with gluten during processing. One to two percent of people in the US are affected, and women are two to three times more likely than men to have the disease. (Fasano A, et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003;163(3):286-292)
Gluten is relatively resistant to digestion; incomplete breakdown of this protein produces peptide fragments that are highly irritating to people with celiac disease. Immune cells in the wall of the gut react to gluten, leading to an inflammatory response that damages the gut lining.
Two factors determine whether a person will develop celiac disease: a genetic predisposition and the consumption of gluten proteins. People with other autoimmune disorders and certain genetic conditions are at a higher risk for celiac disease.
Some individuals with celiac disease have no significant symptoms. Others exhibit signs of severe malabsorption and multiple organ system involvement. Celiac disease confers a higher risk of some cancers.
Signs and Symptoms of, and Conditions Associated with, Celiac Disease
- Diarrhea
- Fatigue
- Borborygmus (frequent, audible bowel sounds)
- Abdominal pain
- Bloating
- Weight loss
- Flatulence
- Osteoporosis
- Thyroid dysfunction
- Dermatitis herpetiformis (a shingles-like rash)
- Abnormal liver function tests
- Iron-deficiency anemia
- Constipation
- Nausea and vomiting
- Neurologic dysfunction (cerebellar ataxia, dementia, seizures, neuropathy)
(Adapted from Presutti RJ, et al. Celiac disease. Am Fam Phys 2007;76(12):1795-1802, and Neto JIS, et al. Neurological manifestations of celiac disease. Arq Neuropsiquiatr 2004;62(4):969-972)
Diagnosis of Celiac Disease
Celiac disease is currently underdiagnosed in the US (one in 133 people have the condition, but diagnosis is made in only one in 4500). People with persistent gastrointestinal complaints, unexplained iron-deficiency anemia or liver abnormalities, a family history of the condition, or premature osteoporosis should be evaluated for celiac disease.
No single test has been accepted as the “gold standard” for diagnosis; the combination of targeted blood tests (IgA endomysial and tissue transglutaminase antibodies) and small bowel biopsy is highly specific for celiac disease.
Since the sensitivity of blood tests varies from person to person, small bowel biopsy is still required to confirm the diagnosis of celiac disease in most cases. However, the degree of intestinal involvement also varies, so at least four biopsies should be obtained during endoscopy.
Complications of Celiac Disease
- Celiac disease confers an increased risk of mortality, mainly because it increases the risk for certain malignancies (non-Hodgkin’s lymphoma, thyroid cancer, and cancers of the mouth, throat, esophagus, and small intestine).
- Osteoporosis that develops in children as a result of celiac disease may reverse when the celiac disease is treated. Adult osteoporosis—with its attendant risk for fracture—may persist.
- Nutritional deficiencies (vitamin B12, folate, iron, fat-soluble vitamins, etc.) may cause multiple clinical or sub-clinical problems.
- Thyroid dysfunction (Hashimoto’s thyroiditis or Grave’s disease) is often associated with celiac disease.
Treatment of Celiac Disease
Avoidance of food products that contain gluten is the key to treating celiac disease. Although the availability of gluten-free foods has improved in recent years, a gluten-free diet can seem quite restrictive for individuals who are accustomed to eating a wide variety of foods. Consultation with a trained dietician is usually necessary.
Appropriate treatment leads to resolution of symptoms for most people who suffer from celiac disease. Those with persistent problems or who have difficulty adhering to a gluten-free diet may benefit from participation in support groups.
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