I am Dr. Ritu Verma. I am a pediatric gastroenterologist and Director of the Center for Celiac Disease at Children's Hospital in Philadelphia. We are going to talk a little bit about celiac disease today.
As you know, celiac disease is an autoimmune disease, and it is a genetic condition that does run in families. The question is: How does one really diagnose celiac disease? It starts out, of course, with first being aware of the potential for celiac disease and therefore thinking about the symptoms. They are the classic symptoms that almost everyone knows about: A child is losing weight and has a distended belly and diarrhea. But by and large these days, the diagnosis is more frequent in children who don't have the classic symptoms. I usually tend to say: Think about celiac disease and nonclassic symptoms, thinking from head to toe.
So consider a child having alopecia, thyroid problems, chronic headaches, early osteoporosis or osteopenia, elevated liver enzymes, anemia, constipation, leg pains, joint pains -- a lot of symptoms that are not the classic symptoms often seen in children diagnosed with celiac disease. If a child has a particular symptom that is not explained by another disease or another condition, one should think about celiac disease.
Besides children with these symptoms, you should also be thinking about children who have type 1 diabetes. Almost 10%-20% of children who have type 1 diabetes also have celiac disease. Hence, one needs to screen these children. Children with Down syndrome and Turner syndrome also have a higher genetic predisposition. Hypothyroidism and many of the other autoimmune rheumatologic conditions should make one think about celiac disease as well.
Because it is a genetic condition and runs in families, screening testing needs to be done in family members: first-degree and second-degree relatives. There is a higher predisposition for celiac disease in those family members regardless of the presence or absence of particular symptoms.
How does one really start screening? Of course, one first is aware based on the symptoms, and then one gets a simple blood test. What does the blood test entail? The initial blood test is the total immunoglobulin A (IgA) level. You want to make sure that the immunoglobulin level is normal. If the IgA level is abnormally low, then you cannot rely on the traditional antibodies and you need to do specific other antibodies, traditionally tissue transglutaminase antibody; endomysial antibody; and, now more currently, deamidated gliadin. They are all blood tests.
Antibodies are elevated in children or adults with active celiac disease. In situations of IgA deficiency, IgG versions may be obtained. Of course, a gastroenterologist would help in making the determination of which antibodies to obtain.
The blood test is a screen. It is extremely important that if the blood test is abnormal, a referral is made to a gastroenterologist without changing the diet prior to that referral.
The last point I would have to make is that early diagnosis of these children is extremely important. If a child is diagnosed after 10 years of life, the chance that they will develop another autoimmune disease is almost 25%, so a blood test and early diagnosis is key.
Comment: North India has a fairly high incidence of Celiac Disease. I think this is a very valuable yet simple commentary for many of the practising pediatricians. I especially enjoyed learning about the list of unusual symptoms associated with Celiac Disease. Also I have never ordered a total IgA test for any of the children that I have suspected of Celiac Disease, and this could be a cause of false negatives in some of these cases. Finally, testing for kids with Down's, Turner's, hypothyroid & IDDM & any other rheumatological disorder is something that needs to put in to practice routinely.