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)

Signs 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.