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Definition

Celiac disease, or celiac sprue, is a chronic disorder of the small intestine caused by sensitivity to gluten, a protein found in wheat and rye and, to a lesser extent, in oats and barley. It causes poor absorption by the intestine of fat, protein, carbohydrates, iron, water, and vitamins A, D, E, and K.

Description

The word sprue derives from the Dutch spruw, which means mouth blisters. These were described as an important sign of the illness by the Dutch physician Vincent Ketelaer in 1669, almost three centuries before gluten's role was suspected. Bread is assuredly not the staff of life for people with celiac disease. Instead, this trusted dietary mainstay produces abdominal discomfort and even malnutrition for some people. The definitive clue that bread may be problematic for some people emerged when Holland's supply of cereal grains gave out during a famine at the end of World War II. Some Dutch children who had previously failed to thrive gained weight and strength when all they had to eat was potatoes and other local vegetables. After the famine ended and bread once again became available, the health of these children rapidly deteriorated. Careful experiments conducted in Holland identified gluten, a protein insoluble in water, as the culprit. If fat were the only nutrient not being absorbed by the sprue victim's digestive tract, the consequences of the disease would be less serious. Unfortunately, inflammation and destruction of the small intestine's lining prevents the normal absorption of many types of nourishment. Celiac disease patients may become anemic due to faulty uptake of iron, folic acid, or both. Because calcium and/or vitamin D is not being absorbed, the bones may become porous. The legs may swell as a consequence of protein malabsorption. The gums may bleed or bruising may be frequent if vitamin K levels fall too low. Deficiencies of other vitamins can produce neurological impairment, dry skin, and soreness of the lips or tongue.

Causes

It occurs mostly in whites of Northern European ancestry and is rare in Africans and Asians. While the precise mechanism of intestinal damage is unknown, it is clear that removal of gluten from the diet results in resolution of symptoms and intestinal healing in most patients. Gluten refers to the protein component of grains such as wheat, rye, barley, and oats (but not rice or corn).

Symptoms

Symptoms of celiac disease sometimes become apparent as soon as cereal is introduced into an infant's diet. Occasionally, though, there are no signs of the disorder until middle or late adulthood. Persistent diarrhea, which is usually accompanied in children by failure to grow properly, and in adults by unexplained weight loss, is often a clue. Stools are typically bulky, light tan or gray, frothy, and rancid smelling; they tend to adhere to the bowl when the toilet is flushed. The stickiness is due to their high fat content. Adults with untreated sprue often excrete 30 to 40 grams of unabsorbed fat daily - about ten times the normal amount. However, the stools may also be watery and frequent in number in other patients. There may be pronounced flatulence and weakness. Dermatitis herpetiformis, a characteristic skin rash, occurs in less than 10 percent of patients with celiac sprue. Itchy bumps occur over the legs, trunk, scalp, and neck.

Diagnosis

In addition to the history and physical exam, tests may include blood tests to confirm malabsorption of iron, folate, and vitamin B12 and to confirm anti-gliadin (anti-gluten) antibodies. Stool studies and mucosal biopsies of the small intestine may also be performed.

Treatment

The primary treatment of celiac disease is to remove all gluten from the diet, which is easier said than done. Food labels should be examined carefully for the addition of gluten or grain products. Hot dogs, ice cream, commercial soups and sauces, candy bars, and all kinds of baked goods can be sources of gluten (even small amounts of gluten must be avoided). Rice, soybean, potato, and corn flours are safe. Many doctors refer the patient to a dietitian for detailed lists of foods to avoid and for advice on following a healthful diet, which should be high in calories and low in fat. Vitamin and mineral supplements are given as needed. Lactose intolerance may develop temporarily or permanently. The outlook is good for most patients. Recovery is most dramatic in children. In severe cases, complete return to normal bowel function may take months or may never occur. For that reason, and to rule out other diseases of nutritional deficiency or poor absorption, it is best to see a doctor as soon as symptoms appear.

Questions

What tests need to be done to diagnose celiac sprue or to rule out other diseases? What treatment will you be recommending? Should a dietitian be consulted? How long might it take to return to normal? Will there be residual bowel changes or problems?