The familial prevelance of this disease is approximately 10-20% in first degree family members of a patient with celiac disease. Both dermatitis herpetiformis and celiac disease may be seen in the same family. (The closer the relationship of the affected person, the higher the risk). The highest risk is for identical twins 70%, HLA (tissue type), identical sibs 30-40%, non-HLA identical sibs 10-20%, parents LT10%, children LT10%, others not known. This condition can present at any age except for infants who have never had exposure to wheat, barley, rye, and oats, or their derivatives. In patients who have gastrointestinal symptoms or other potentially nutritionally related symptoms, it may be fruitful to investigate these patients who are first degree relatives of people with CD or DH. This would also apply to those patients who have relatives with dermatitis herpetiformes, an itching rash occurring on extensor surface surfaces of the arms and legs, buttocks and back. It has been suggested that consideration for screening should be undertaken, even in asymptomatic patients.
Those patients for whom there is a high suspicion for celiac disease should have a small bowel biopsy which can often be obtained by an experienced endoscopist in the distal duodeum. Celiac disease in children can result in stunting of growth and intellectual development as well as the more classic malabsorptive symptoms.
The best noninvasive tests available for screening for asymptomatic celiac disease are the specific serologic tests. These are of several varieties - anti-gliadin, anti-endomysial, or anti-reticulin antibodies. Our experience and the literature support the use of endomysial antibody tests as the single most specific and probably most sensitive for celiac disease. This test has now become available in specialty laboratories as well as in a small number of academic institutions such as ours. The serologic tests usually require a small amount of serum, 3-4 cc, for analysis. All of the tests should be done with the subject on a normal gluten containing diet. A combination of endomysial and gliadin testing would seem to be the most sensitive as a screening method. The finding of a negative screening test or indeed even a negative small bowel biopsy does not completely exclude the potential for developing frank celiac disease in the future. A positive test is not, however, considered to be diagnostic and would usually require a small bowel biopsy for confirmation. A trial of dietary exclusion of gluten is not recommended as a diagnostic test without a prior abnormal biopsy.
The rationale for screening in adults who have completed their growth is based on the grounds that many patients, even though they may be asymptomatic, often have adjusted to a degree of chronic fatigue or digestive symptoms which they have with so long that they are not considered to be symptomatic or abnormal. These patients, if they have celiac disease, are often astonished at the improvement in their physical condition when the appropriate treatment has been instituted. There is also a significant association of untreated celiac disease with some malignant complications.
The content of this letter is not meant as specific medical advice but rather is provided as an educational service. It is not meant as direct patient advice. All patients should be advised by their physicians in a direct patient-doctor relationship which this cannot supplant.
References:
1. Ferguson A, et al: Clinical and pathological spectrum of celiac disease, active, silent, latent and potential. Gut 34:150-151, 1993.
2. Chorzelski TP, et al: IgA antiendomysium antibody. A new immunological marker for dermatitis herpetiformis and celiac disease. British Journal of Dermatology 111:395-402, 1984.
3. Holmes GKT, et al: Malignancy in celiac disease: effect of a gluten free diet. Gut 30:333-338, 1989.
4. Ferreira M, et al: Endomysial antibody - is it the best screening test for celiac disease? Gut 33:1633-1637, 1992.
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