Celiac disease should be considered when symptoms or laboratory findings suggest that celiac disease could be an explanation of a person's health condition or in first degree family members (parents, siblings, and children) of documented celiac patients. The modern evaluation of a patient with suspected celiac disease begins with blood tests for the Tissue Transglutaminase (tTG) antibody and a total Ig A level. The endomysial antibody (AEA) is sometimes used in place of the tTG. It is important to note that neither of these “celiac anti-bodies” is 100% accurate. The diagnosis is then confirmed by biopsy of the small intestine which is obtained by a commonly performed endoscopic procedure (EGD).
Genetic testing may sometimes be helpful in excluding the disease since almost all (98-99%) have the gene(s). The picture gets quite muddled for those who do have the gene since 30% of the general population also has it and barely 1% has the disease. Therefore, having the gene is not diagnostic for the disease. It is well known that a symptomatic response to a gluten free diet does NOT confirm the diagnosis.
It may be advisable to obtain annual CBC, biochemical panel, iron levels, B12, folic acid and vitamin D-250H. Bone densitometry at the time of diagnosis and periodically thereafter is important - particularly in female patients. Celiac antibodies may be helpful in monitoring some patients, particularly those in whom noncompliance is suspected. First-degree relatives of celiac patients should also be screened with the blood tests described above as celiac disease is a genetic disease (yes, even those without symptoms).
Self-diagnosis presents a particularly difficult problem. The celiac antibodies and microscopic changes obtained at biopsy may normalize or become uninterpretable after gluten free diet is started. The establishment of a confirmed diagnosis then becomes nearly impossible. While there is no physical harm to a gluten free diet, one has committed themselves to an expensive and often inconvenient lifestyle, repeated and often unnecessary testing and may have also subjected their family members to unnecessary screening and testing.
