There are many ways that celiac disease can present itself, and this wide spectrum of symptoms often causes doctors to misdiagnose the condition. For some, the condition rears its head in infancy, often when the child begins eating solids like cereal. For others, diagnosis doesn't come until adulthood, sometimes as a result of surgery, pregnancy or severe stress.
Some of the most common symptoms of celiac disease include chronic diarrhea, abdominal pains, weight loss despite a hearty diet, foul-smelling bowel movements and excessive gas. However, there are some non-gastrointestinal hints as well, including muscle cramps, joint pain, fatigue, irritability and depression. One big clue can be the presence of a skin rash known as dermatitis herpetiformis, which causes blistering and itching, usually on the elbows, knees and rear end.
The severity of these symptoms can vary from person to person, and indeed, some people are completely asymptomatic. It's easy to write off occasional fatigue and diarrhea, but regardless of whether the symptoms interfere with daily life, they're doing severe damage to the intestinal lining. As malnutrition sets in, sufferers are at risk for anemia, infertility, osteoporosis and cancer. Infants may demonstrate a failure to thrive that is easily detectable to doctors, but adults with the condition may continue to stumble through life not knowing why they feel so bad. Studies suggest that for every one person who has received a diagnosis of celiac disease, about 30 people walk around unaware of their condition [source: Mayo Clinic].
Yet, even those who suffer from the symptoms of celiac disease may have to wait years for a correct diagnosis from their doctor. The symptoms mimic many other conditions, such as cystic fibrosis, irritable bowel syndrome and Crohn's disease. In many cases, it's up to the patient to suggest the condition to a doctor. It's particularly important, given the genetic nature of the disease, for close relatives of someone who has received a diagnosis to seek testing.
To test for celiac disease, doctors will usually perform a blood test to check for the presence of certain antibodies; these antibodies attack the enzymes the body produces to deal with the consumption of gluten. Doctors may follow up the blood test with a biopsy to check for damage to the small intestine.
Once a diagnosis of celiac disease has been established, what are the patient's options?