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Celiac Sprue: Overview and Risk Factors

Celiac sprue, also known as celiac disease, gluten–sensitive enteropathy, and nontropical sprue, is an immune–mediated disorder of the small intestine in which patients are sensitive to gluten, a protein contained in wheat, barley, and rye. Gluten acts as a foreign antigen, causing an immune response that damages the lining of the small intestine, resulting in malabsorption of fat, calcium, iron, folate, and other nutrients.

Classically, signs and symptoms initially appear upon the introduction of wheat into a child’s diet (usually at age 6 to 12 months). However, the disease may not present until later in life, typically between the ages of 10 and 40. In children, the presentation may include failure to thrive, delayed growth, irritability, vomiting, constipation, large stools, peripheral edema, clubbing, and frequent respiratory infections. In adults, most cases are asymptomatic, but some patients may have diarrhea, weight loss, abdominal swelling, and bloating.

Patients may also have nonintestinal symptoms. Malabsorption of vitamin D and calcium may result in rickets, osteoporosis, and bone fractures. Iron malabsorption can result in anemia. Amenorrhea, infertility, dermatitis herpetiformis, and neurologic symptoms (peripheral neuropathy, ataxia, seizures) may occur.

Risk Factors

Celiac sprue occurs in people of all ages and ethnicities, but appears to be most common in Caucasians of Northern European descent. Other risk factors include:

Genetics. More than 95% of affected patients have HLA–DQ2 and/or HLA–DQ8 mutations. Celiac sprue occurs in 10% of first–degree relatives of affected patients. 

Immune disorders. Patients with a history of immune disorders (eg, IgA deficiency, autoimmune thyroid disease) are at increased risk.

Environment. Infectious agents, including respiratory and gastrointestinal viruses, may play a role in susceptible patients.

Type 1 diabetes mellitus. About 5% of patients with type 1 diabetes mellitus also have celiac disease.

Down syndrome. Patients with Down syndrome have double the risk of celiac disease, compared with the general population.

 

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Celiac Sprue: Diagnosis and Treatment >>