celiac disease

Celiac disease, also called sprue or gluten intolerance, is an inherited, autoimmune disease in which the lining of the small intestine is damaged from eating gluten and other proteins found in wheat, barley, rye, and possibly oats.

Causes

The exact cause of celiac disease is unknown. The intestines contain projections, called villi, that absorb nutrients. In undiagnosed or untreated celiac disease, these villi become flattened, affecting the ability to absorb nutrients properly.

The disease can develop at any point in life, from infancy to late adulthood. Those with a family member with celiac disease are at greater risk for developing the disease. The disorder is most common in Caucasians and those of European ancestry. Women are affected more commonly than men.

Numerous diseases and conditions are associated with celiac disease, including:

Anemia

Autoimmune disorders such as rheumatoid arthritis and systemic lupus erythematosus

Certain types of intestinal cancer

Dermatitis herpetiformis

Down syndrome

Lactose intolerance

Miscarriage or unexplained infertility

Neurological conditions

Osteoporosis or osteopenia

Thyroid disease

Type 1 diabetes

Symptoms

The symptoms of celiac disease can vary significantly from person to person. This is part of the reason the diagnosis is frequently delayed. For example, one person may have constipation, a second may have diarrhea, and a third may have no irregularity in stools.

A partial listing of gastrointestinal symptoms:

Abdominal pain

Abdominal distention, bloating, gas, indigestion

Constipation

Decreased appetite (may also be increased or unchanged)

Diarrhea, chronic or occasional

Lactose intolerance (common upon diagnosis, usually goes away following treatment)

Nausea and vomiting

Stools that float, are foul smelling, bloody, or "fatty"

Unexplained weight loss (although people can be overweight or of normal weight upon diagnosis)

A partial listing of nonintestinal symptoms:

Anemia (low blood count)

Bone and joint pain

Bone disease (osteoporosis, kyphoscoliosis, fracture)

Breathlessness (due to anemia)

Bruising easily

Dental enamel defects and discoloration

Depression

Fatigue

Growth delay in children

Hair loss

Hypoglycemia (low blood sugar)

Irritability and behavioral changes

Malnutrition

Mouth ulcers

Muscle cramps

Nosebleed

Seizures

Short stature, unexplained

Skin disorders (dermatitis herpetiformis)

Swelling, general or abdominal

Vitamin or mineral deficiency, single or multiple nutrient (for example, iron, folate, vitamin K)

Exams and tests

A complete blood count (CBC) may show signs of anemia. It is important to determine the cause if anemia is detected.

An increase in alkaline phosphatase level may indicate bone loss.

Low cholesterol and albumin levels may be signs of malabsorption and malnutrition.

Mildly raised liver enzymes and abnormal blood clotting may also be noted.

Blood tests can detect several special antibodies. The health care provider will order these antibody test if celiac sprue is suspected. If the tests are positive, upper endoscopy is usually performed to sample a piece of tissue (biopsy) from the first part of the small intestine (duodenum).

Genetic testing of the blood is also available to help determine who may be at risk for celiac disease.

An endoscopy with enteroscopy, particularly of the lower sections of the intestine most commonly affected, will show a flattening of the villi.

A follow-up biopsy or blood work may be ordered several months after the diagnosis and treatment. These confirm the disease. Normal results mean that you have responded to treatment, thereby confirming the diagnosis. However, this does not suggest that the disease has been cured.

Treatment

You must follow a lifelong gluten-free diet. This allows the intestinal villi to heal. Eliminate foods, beverages, and medications that contain wheat, barley, rye, and possibly oats.

You must read food and medication labels carefully to look for hidden sources of these grains and their derivatives. Since wheat and barley grains are found abundantly in the American diet, keeping to this diet is challenging. With education and planning, you will achieve the goal of healing.

You should NOT begin the gluten-free diet before a diagnosis is made. Doing so will affect future testing for the disease.

The health care provider may prescribe vitamin and mineral supplements to correct nutritional deficiencies. Occasionally, corticosteroids (such as prednisone) may also be prescribed for short-term use or if you have refractory sprue. Following a well-balanced, gluten-free diet is generally the only treatment needed to stay well.

Upon diagnosis, get help from a registered dietitian who specializes in celiac disease and the gluten-free diet. A support group may also help you cope with the disease and diet.

Prognosis

Removing all damaging grains from the diet is the most important measure you can take to become healthy. If you follow the diet strictly, you can expect to lead a long, healthy life – if permanent damage did not occur before diagnosis.