Celiac disease (also called sprue, celiac sprue, and gluten enteropathy) is a permanent dietary disorder caused by an immunologic response to gluten, a storage protein found in certain grains, that results in diffuse damage to the proximal small intestinal mucosa with malabsorption of nutrients.
Although symptoms may manifest between 6 months and 24 months of age after the introduction of weaning foods, the majority of cases present in childhood or adulthood. Population screening with serologic tests suggests that the disease is present in 1:100 whites of Northern European ancestry, in whom a clinical diagnosis of celiac disease is made in only 10%, suggesting that most cases are undiagnosed or asymptomatic. Celiac disease develops only in people with the HLA-DQ2 (95%) or -DQ8 (5%) class II molecules, which are present in 40% of the population. Although the precise pathogenesis is unclear, celiac disease arises in a small subset of genetically susceptible (-DQ2 or -DQ8) individuals when dietary gluten stimulates an inappropriate immunologic response.
What are the symptoms of celiac disease?
Symptoms of celiac disease vary widely, and a person may have multiple symptoms that come and go. If you have celiac disease, you may have digestive problems or other symptoms. Digestive symptoms are more common in children than in adults. Digestive symptoms of celiac disease may include
- chronic diarrhea
- lactose intolerance due to damage to the small intestine
- loose, greasy, bulky, and bad-smelling stools
- nausea or vomiting
- pain in the abdomen
For children with celiac disease, being unable to absorb nutrients at a time when they are so important to normal growth and development can lead to
- damage to the permanent teeth’s enamel
- delayed puberty
- failure to thrive, meaning that an infant or a child weighs less or is gaining less weight than expected for his or her age
- mood changes or feeling annoyed or impatient
- slowed growth and short height
- weight loss
Some people with celiac disease have symptoms that affect other parts of the body. These symptoms may include
- dermatitis herpetiformis
- fatigue, or feeling tired
- joint or bone pain
- mental health problems, such as depression or anxiety
- nervous system symptoms, such as headaches, balance problems, seizures, or peripheral neuropathy
- reproductive problems in women and girls—which may include infertility, delayed start of menstrual periods, missed menstrual periods, or repeated miscarriages—and male infertility
- symptoms involving the mouth, such as canker sores; a dry mouth; or a red, smooth, shiny tongue
Most people with celiac disease have one or more symptoms before they are diagnosed and begin treatment. Symptoms typically improve and may go away after a person begins eating a gluten-free diet. Symptoms may return if a person consumes small amounts of gluten.
Depending on how old you are when a doctor diagnoses your celiac disease, some symptoms, such as short height and tooth defects, may not improve. People with celiac disease who have no symptoms can still develop complications over time if they do not get treatment.
Removal of all gluten from the diet is essential to therapy— all wheat, rye, and barley must be eliminated. Although oats appear to be safe for many patients, commercial products may be contaminated with wheat or barley during processing. Because of the pervasive use of gluten products in manufactured foods and additives, in medications, and by restaurants, it is imperative that patients and their families confer with a knowledgeable dietitian to comply satisfactorily with this lifelong diet.
Several excellent dietary guides and patient support groups are available. Most patients with celiac disease also have lactose intolerance either temporarily or permanently and should avoid dairy products until the intestinal symptoms have improved on the gluten-free diet. Dietary supplements (folate, iron, zinc, calcium, and vitamins A, B6, B12, D, and E) should be provided in the initial stages of therapy but usually are not required long-term with a gluten-free diet. Patients with confirmed osteoporosis may require long-term calcium, vitamin D, and bisphosphonate therapy.
Improvement in symptoms should be evident within a few weeks on the gluten-free diet. The most common reason for treatment failure is incomplete removal of gluten. Intentional or unintentional rechallenge with gluten may trigger acute severe diarrhea with dehydration, electrolyte imbalance, and may require TPN and intravenous or oral corticosteroids (prednisone 40 mg or budesonide 9 mg) for 2 or more weeks as a gluten-free diet is reinitiated.