Celiac disease

Celiac disease results from severe atrophy of the intestinal villi, which serve as the sites of absorption of fluids and nutrients. This atrophy is produced by the permanent intolerance of the infant or child to the gliadin fraction of gluten, which is a protein found in wheat and rye. Although gliadin is also present in oats and barley, most affected children can tolerate a moderate amount of these grains.

Celiac disease also is known as gluten enteropathy or celiac sprue. Celiac disease results in the accumulation of the amino acid glutamine, which is toxic to intestinal mucosal cells. Intestinal villous atrophy occurs, which affects absorption of ingested nutrients.

Causes

A predisposition to celiac disease is believed to be inherited, although the exact way by which it is transmitted is not known.

Sign and symptoms

• Symptoms of the disorder occur most often between the ages of 1 and 5 years.
• The clinical manifestations of celiac disease begin insidiously 3 to 6 months after solid foods, usually cereals, are added to the infant's diet.
• The infant then begins to have diarrhea and possibly steatorrhea (mushy, frothy, bulky, pale, fatty, foul-smelling stools) because the absorption of fat is affected.
• As the pathologic processes in the villi continue, the infant gradually becomes unable to absorb protein, carbohydrate, iron, calcium, folic acid, fat-soluble vitamins, and vitamin B-12.
• The muscles in the proximal groups and the buttocks become wasted, and the infant becomes irritable, apathetic, and anorexic.
• Peripheral edema in the lower extremities may become evident as the result of hypoproteinemia.
• Vomiting, abdominal pain, and rectal prolapse may also occur.
• If the peristaltic activity is decreased, constipation and fecal impaction may be present.
• Most afflicted infants eventually have severe malnutrition and fail to thrive, as evidenced by their lack of weight gain and growth in height, which may persist throughout childhood.
• Anemia due to iron deficiency and inadequate absorption of vitamin B-12 and folic acid.
• Demineralization of bone (osteoporosis) and softening of bone (osteomalacia) due to low levels of vitamin-D, thus impaired calcium absorption.
• Rickets may occur as the child's height increases. Tooth eruption may also be delayed
• A celiac crisis or exacerbation of the disease may be precipitated by an intercurrent infection, usually of the GI or respiratory tract. Acute crisis causes profuse diarrhea and vomiting, can lead to electrolyte imbalance, rapid dehydration, and severe acidosis.

 Diagnosis

• A variety of studies can help establish the diagnosis of celiac disease. These studies include a 3-day stool collection and examination to determine the presence of fecal fat and blood examinations to determine the presence of anemia, hypoalbuminemia, hypoprothrombinemia, and the levels of folic acid, calcium, carotene, vitamins B-12, A, and D, and gamma-globulin.
• X-ray films determine the child's bone age and the presence of osteoporosis and osteomalacia. Barium contrast studies show a dilated small bowel and coarse mucosal folds.
• A biopsy of the small intestine with the finding of villous atrophy and other changes suggests celiac disease.

Treatment

• The overall goal of care for infants and children who have celiac disease is to achieve a stable condition for as long as possible. These children require care in the hospital during the period of diagnosis and during times of acute crisis, but the remainder of their care is given in the home by the parents.
• Maintain a gluten-free diet, substituting corn, rice, and millet as grain sources.
• Instruct the parents and child about lifelong elimination of gluten sources such as wheat, rye, oats, and barley.
• Administer mineral and vitamin supplements, including iron, folic acid and fat soluble vitamins A, D, E and K.
• Instruct the parents in measures to prevent celiac crisis.
• Teach the child and parents about a gluten-free diet and about reading food labels carefully for hidden sources of gluten.