Celiac Disease (Celiac Sprue, Sprue Or Gluten Enteropathy)

Introduction: Celiac disease is an inborn hypersensitivity to gluten, to be more precise, a hypersensitivity to the sub-fraction of gluten, called "gliadin". Recently a new test has been developed, which is very specific and sensitive, called endomysial antibody (EMA) titre. With this test it has been established that many more people than were previously thought of have celiac sprue.

For instance, in Ref. 9 the authors found by studying a sample population in New Zealand that 1.2% of the population were positive for celiac disease, which was 3-fold more common than previously thought.

The pathophysiology of celiac disease is such that the antibodies against gliadin (from wheat or rye or other food products) form immune complexes when they get into contact with gliadin in the small intestine. This leads to chronic inflammation, scarring and atrophy. The end result is a malabsorption. This means that the small intestine can no longer absorb the normal amount of nutrients as one would expect to normally occur. This malabsorption syndrome is what causes all of the symptoms of this gluten enteropathy.

Signs and symptoms:

Often and perhaps even most of the time celiac disease has no symptoms, at least not initially. The more severe cases would have some fatty stools and bowel movements that are more often.

There may be some abdominal cramps after certain foods. If these patients had celiac disease as children already, then body growth may have been inhibited and for that reason these patients often are of a short stature. Other symptoms can be an itchy skin condition, called dermatitis herpetiformis. It is now known that this skin disease is merely another presentation of celiac disease and the EMA titre is often positive in these patients as well. Other consequences of the malabsorption, such as iron deficiency, can lead to anemia (microcytic anemia, often more in children).

B12 and folic acid deficiency leads to another form of anemia, which will look different under the microscope (megaloblastic anemia, often in adult celiac disease). The lack of vitamin D can lead to bone deformities and rickets. There might be bone pain as well. The more atrophy in the small intestine there is, the less absorption of sugars such as xylose will take place and this leads to an osmotically driven diarrhea. Along with the diarrhea go valuable minerals and protein. The end result is a slow form of starvation. In women there is a problem with fertility and lack of menstrual periods.

Diagnosis:

Because the symptoms can be so subtle, it was difficult in the past to make the diagnosis. Now there is the specific endomysial antibody titre test as mentioned above, which will clearly show whether or not the patient has celiac disease. However, the physician needs to think about ordering this test.

There are some other tests that might be useful: if there is a combination of low calcium, potassium and sodium, coupled with a low albumin count and a high alkaline phosphatase, this should be a trigger to the physician to order the EMA titre. To determine the degree of malabsorption the 5 gram D-xylose test can be ordered, which will determine what percentage of this sugar is absorbed. The most direct test is an endoscopic procedure where the gastroenterologist uses endoscopy to visualize the first part of the small bowel(called jejunum) and takes several mini biopsies. These will confirm the presence of celiac disease and also the severity and the amount of atrophy. This has some prognostic implications, as not every case will respond to a simple gluten free diet.

Treatment:

Before treatment is instituted, the diagnosis must have been established beyond a shadow of a doubt (see above). The main part of the therapy is to strictly avoid gluten in the diet. This is a major step in anybody's life and unfortunately, there is no exception and no holiday from this for the rest of the life of the person with celiac disease. On the other hand it is not the end of the world either.

Celiac disease and gluten free diet:

However, I would like to explain why it is so important to take this dietary step so seriously:

Let me explain this by way of an analogy to an asthmatic patient who has been diagnosed with an allergy to cat and dog hair. The allergist says that unfortunately there is no allergy shot that can be given, but the patient must avoid indoor exposure to cats and dogs. If the patient abides by this recommendation, he/she will be fine with the asthma. However, if the asthmatic has a cat that he/she really loves and does not get rid of, there will likely be a serious asthma attack down the road.

Alternatively, there could be a slow process of closing down the airways from the immune complex (cat dander firmly attached to the circulating antibody in the asthmatic's system), which would then lead to lung fibrosis, a dangerous irreversible lung condition similar to end stage emphysema.

The same phenomenon of circulating antibodies that have to be taken seriously, is happening in celiac disease, except that the target organ here is not the lung, but the lining of the small intestine (jejunum). With the asthmatic the transport of air across the lung is at stake. With the celiac disease the transport of all of the nutrients into our system is at stake.

Because the gluten free diet is so crucial, a referral to a knowledgeable dietitian is important. Supplements likely will also be needed for a period of time. In more serious cases supplementation may have to be given on an ongoing basis. Your doctor will advise you regarding your particular case.

From time to time the EMA titre should be repeated . The authors of Ref. 10 have shown that the EMA titre can be successfully used to monitor gluten diet compliance. The titre disappears in a compliant patient, but reoccurs in non compliant patients. A similar observation, although more crude, is the xylose absorption test, which will be normal with a compliant patient, but return to form abnormal values with non-compliance.

Practical point and prevention

Hummel et al. (Ref. 11) found an interesting connection between diabetes and celiac disease. This group followed children of patients with type I diabetes (insulin dependent) and checked them for EMA titers. To their surprise they found that there is a significantly higher percentage of children with celiac disease when compared to the normal population. Also, there was a significant number of these children, who were not yet symptomatic, but showed established celiac disease on endoscopic biopsy. It appears that with more experience targeted screening might be possible for high risk groups of celiac disease using the endomysial antibody (EMA) titre.

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Disclaimer:

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.

References:

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Last Modified: Dec. 2, 2006