Q: My child is rather small and thin. Although I have been told there is nothing wrong with him, I recently discovered that a distant relative has been diagnosed with celiac disease. How likely is it that my child may have celiac disease too? I am concerned that he may be undiagnosed.
A: In the past ten years, knowledge about Celiac Disease has exploded exceptionally fast. As a result, this condition, which was previously considered rare, is now diagnosed with greater frequency. However, there are a great number of patients who tell us that it took doctors up to ten years before their diagnosis was made.
In a recent American Journal of Clinical Nutrition, the incidence of celiac disease was said to occur in approximately one out of 100 people in the general population. The frequency of celiac disease found in relatives is 15%; people with Type I Diabetes is between 4 and 10%; people with Down syndrome is 8 - 10%; and people with an IgA (immune) deficiency is approximately 2%.
Previously, it was thought that patients with celiac disease might be at higher risk for developing a highly aggressive from of intestinal lymphoma. According to a recent publication by Dr. Hoffenberg, found in the journal Gastroenterology, the once considered substantial risk might actually be more modest, perhaps as much as twice the risk over people who don't have celiac disease.
Although there is currently no test to diagnose celiac disease as early as the first year of life - screening tests are still considered experimental at this time and mostly limited to the animal model - this common condition usually gets diagnosed after many visits to a physician. It may present itself in many different ways in childhood to as late as adulthood (Recently, a parent of one of my patients was diagnosed in her late thirties).
At the present time, screening tests are done on babies for other less common conditions. For example, we screen for Phenylketonuria, which occurs 1 in 14,000; for neonatal hypothyroidism, which occurs 1 in 4,000; and for cystic fibrosis, which occurs in about 1 in 3,000 (The Calgary Health Region is currently pioneering one of the first projects in Canada for earlier diagnosis of cystic fibrosis).
Celiac disease is considered an autoimmune disorder, where the body's immune system starts a war with itself. Patients become intolerant of foods that contain substances such as rye, oats, wheat, barley, and other grain products. Some patients also react to cosmetics and skin care products that contain wheat and gluten. Thus, older patients need to be concerned with the use of lipstick or toothpaste, products which tend to take a back seat to food concerns.
For some patients, the elimination of bread, pastries and pastas will suffice; for others, it gets much more complicated and burdensome. As a result, many patients get frustrated and even depressed by the required change in lifestyle. These changes can impact energy levels as well as functioning with optimal health.
A recent survey indicated that many celiac patients learn to take care of their diet by themselves. This same survey showed that only 25% of patients felt their physician knew much about dietary matters. Dietitians ranked somewhat better, given 35% of patients felt they got all the help they needed from their dietitian. Many patients use web sites such as www.celiac.org or www.csaceliac.org, in addition to other electronic forums where patients share information that may help each other.
One of the more exciting developments in diagnosing celiac disease lies in the area of blood testing. Doctors, who suspect their patient may suffer from this chronic illness, can currently use tests called tissue transglutaminase (tTG) and endomesial antibody (EMA). In the old days, prior to these blood tests, the only way to make the diagnosis of Celiac Disease was by doing a biopsy of the small bowel. Although a bowel biopsy is still considered the gold standard for making a definitive diagnosis, many clinicians put their confidence in the use of the tTG and EMA.
No laboratory test is perfect, but there is about a 95% chance that a patient does not have celiac disease when the tTG and EMA tests are negative. According to gastroenterology experts from the Washington School of Medicine (in St. Louis), a positive blood test requires a biopsy. Of these patients, about 70% show the typical changes of celiac disease on a biopsy of their small bowel (These changes consist of flattened villae, due to atrophy and inflammation).
When patients suspect they may have undiagnosed celiac disease, and then decide on their own to eliminate gluten and wheat products from their diet, they may be doing themselves a terrible disfavor. The biopsy and blood tests become absolutely useless in making a diagnosis, until that patient reintroduces these products into his or her diet. The problem is that experts vary in their opinion as to how long a patient must be exposed to gluten before the tests become useful again; some say at least 18 months, while others claim it may be even as long as 5 years in some patients.
Given it is so complicated to avoid gluten products for life, and since many products are not labeled as gluten-free, some research has looked at the use of digestive enzymes (much like giving people who suffer from lactose intolerance lactase enzymes). However, this work is still in its infancy, being performed among what some clinicians call "bench laboratory folks".
When clinicians themselves suffer from celiac disease, they get a feel for how challenging it may be to avoid gluten over a lifetime. One pharmacist with celiac disease launched a web site www.glutenfreedrugs.com. For more information, other useful sites are www.glutenfreemall.com and www.gluten.net, which is the site of the Gluten Intolerance Group of North America.
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