Celiac disease 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.

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, and the ability to absorb nutrients properly is altered.

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.

There are numerous diseases and conditions 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

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 non-intestinal 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)

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, which is commonly experienced before diagnosis.

Low cholesterol and albumin levels may reflect malabsorption and malnutrition. Mildly elevated liver enzymes and abnormal blood clotting may also be noted.

Several antibody blood tests are used to screen for celiac disease. in screening.

An endoscopy with small bowel biopsy, particularly of the lower sections of the intestine most commonly affected, will show an flattening of the villi.

A follow-up biopsy or blood work may be ordered several months after the diagnosis and treatment. These serve as a final confirmation of the disease. Normal results mean the patient has responded to treatment, thereby confirming the diagnosis. However, this does not suggest that the disease has been cured.