| All of us have patterns of proteins on the surface of | | | | with microscopic or collagenous colitis, neurologic |
| our white blood cells. The proteins are known as | | | | manifestations of gluten sensitivity and dermatitis |
| human leukocyte antigens (HLA), one of which is DQ. | | | | herpetiformis, which has been one of the gluten |
| Celiac Disease (CD) and non-Celiac gluten sensitivity | | | | sensitive conditions noted to be at times occurring in |
| (NCGS), and several autoimmune conditions occur | | | | DQ2, DQ8 negative individuals. |
| more frequently with certain HLA DQ types. DQ | | | | Why some people get Celiac Disease or become |
| gene testing is performed by analyzing cells from a | | | | gluten sensitive is not wellunderstood. Certain factors |
| blood sample or from a Q-tip swab of the mouth. | | | | are believed to trigger it including the onset of |
| HLA types have a naming system that can be | | | | puberty, pregnancy,stress, trauma or injury, surgery, |
| confusing even to scientist and physicians but here is | | | | viral or bacterial infections including those of thegut, |
| my explanation of the testing, the results, and what | | | | medication induced gut injury or toxicity e.g. |
| they may mean to you and your family. | | | | non-steroidal anti-inflammatorymedications such as |
| Each of us has two copies of HLA DQ. Because | | | | aspirin, ibuprofen, etc., immune suppression or |
| there are 9 serotypes of DQ we are all DQx/DQx | | | | autoimmunediseases. There is also a well known |
| where x is anumber between 1 & 9. For | | | | group of individuals who are termed "latent" Celiacs. |
| example, I am DQ2/DQ7. I received the DQ2 from | | | | They are those at high risk because they have close |
| one of my parents and the DQ7 from the other. | | | | relatives who have Celiac disease with whom they |
| Because we get one DQ type from each of our | | | | share one or more of the Celiac genes DQ2 and/or |
| parents and give oneto each of our children it is easy | | | | DQ8. Though they usually have little or no symptoms |
| to to see how the DQ genes pass through a family. | | | | they may have abnormal blood tests and/or biopsies |
| This is important because two DQ types, DQ2 and | | | | indicating possible or definite Celiac disease. Others |
| DQ8, are estimated to be present in over 98% of all | | | | have negative blood tests and normal biopsies but |
| people who have Celiac disease, the most severe | | | | symptoms that respond to a gluten-free diet. |
| form of gluten sensitivity. | | | | The severity of the sensitivity to gluten does appear |
| Rarely, true Celiac disease or dermatitis herpetiformis, | | | | to be related to the DQ type, family history (highest |
| the skin disease equivalent of Celiac, have been | | | | risk is in the non affected identical twin of a Celiac), |
| reported to occur in people who do not have DQ2 | | | | pre-existing intestinalinjury, degree of exposure to |
| and/or DQ8. However, according to unpublished data | | | | gluten (how frequent and large a gluten load |
| from Dr. Ken Fine of Enterolab, the other six types, | | | | anindividual is exposed to), and immune status. Once |
| except DQ4, are associated with risk of elevated | | | | initiated, gluten sensitivitytends to be life long. True |
| stool antibodies to gliadin, the toxic fraction of gluten, | | | | Celiac disease does require lifelong complete gluten |
| and/or tissue transglutaminase (tTG) an enzyme. | | | | avoidance to reduce the increased risk of serious |
| Both of these antibodies are usually elevated in the | | | | complications such as severe malabsorption, cancers |
| blood of individuals with Celiac disease though they | | | | (especially of the GI tract) lymphoma, other |
| may be normal in the blood of individuals who are | | | | autoimmune diseases and premature death due to |
| gluten sensitive and have a normal small intestine | | | | these complications. |
| biopsy but respond favorably to a gluten-free diet. | | | | Again, DQ testing can be done from cells from blood |
| Fine has publicly reported that elevated stool | | | | or by a swab of the inside of the mouth but not all |
| antibodies to gliadin and/or tTG have been detected | | | | labs test for or report the full DQ typing but only the |
| in all of the untreated Celiacs tested in his lab, 60% | | | | presence or absence of DQ2 and DQ8. The lab that |
| of non-Celiacs who have symptoms consistent with | | | | performs DQ testing is usually determined by an |
| gluten sensitivity, but in none of the controls tested | | | | individual insurance company on the basis of |
| including cow manure. Follow up surveys of those | | | | contracts with specific commercial labs. However, if |
| individuals with elevated stool antibodies who initiated | | | | your insurance contracts with Quest Labs or the |
| a gluten-free diet compared with those with elevated | | | | Laboratory at Bonfils (Denver, CO) full DQ can be |
| antibodies who did not reportedly showed | | | | done if ordered and authorized by the insurance |
| significantly improved quality of life and symptoms in | | | | company. |
| the gluten-free group. | | | | For those willing to pay out of pocket, Bonfils |
| He also reported DQ2 and DQ8 positive individuals, | | | | performs full DQ testing for Enterolab ( on a sample |
| have had as a rule the highest elevations of stool | | | | obtained by a Q tip swab of the mouth. Since it is |
| gliadin antibody followed by those who are DQ7 | | | | painless and non-invasive it is well tolerated especially |
| positive. Only those who are doubly positive for DQ4 | | | | by young children. Also because the testing can be |
| have not been found to have significantly elevated | | | | ordered without a physician and the sample obtained |
| antibodies to indicate gluten sensitivity. This is | | | | in their home using a kit obtained from Enterolab it is |
| consistent with the differences in prevalence rates of | | | | convenient. The kit is returned by overnight delivery |
| Celiac disease seen in parts of the world. Since DQ4 | | | | to Enterolab who forwards the test onto Bonfils. The |
| is not generally found in those of Caucasian race of | | | | cost is $149 for the genetic testing alone and has to |
| Northern European ancestry, where Celiac incidence is | | | | be paid for in advance by credit card or money order |
| highest, but in those from Asia or Southern Africa | | | | and is generally not reimbursed by insurance. |
| where there is a very low incidence of Celiac disease | | | | Enterolab also provides the stool testing for gliadin |
| and gluten intolerance. | | | | and tissue transglutaminase antibodies to determine if |
| DQ2 & DQ8, the two major types, are present | | | | gluten sensitivity is evident. The gliadin antibody alone |
| in 90-99% of people who have Celiac disease. They | | | | is |
| are also present in approximately 35-45% of people | | | | $99 or the full genetic typing, stool testing for gluten |
| in the U.S., especially those of Caucasian race of | | | | and cow's milk protein antibodies, and a test for |
| Northern European ancestry. The prevalence in the | | | | evidence of malabsorption is $349. |
| U.S. of Celiac disease is 1% and though a prevalence | | | | Again, the advantages of full DQ testing is to |
| of 1 in 100 is very common and much higher than had | | | | determine if someone has one or more copy of DQ2 |
| been believed for years, this is only a fraction of the | | | | or DQ8 or carry both and therefore have a higher |
| genetically at risk that actually are confirmed to have | | | | risk for Celiac disease or more severe gluten |
| Celiac disease by abnormal blood tests and small | | | | intolerance. If you are DQ2 or DQ8 negative then |
| intestine biopsies. However, the number of people | | | | your risk of Celiac disease is low, though not |
| who report a response to a gluten-free diet is much | | | | non-existent. If you are not DQ4/DQ4 then you do |
| higher. | | | | have a risk for gluten sensitivity. If you determine |
| Stool antibody test results would support this and | | | | the full types within enough family members you can |
| the concept of a spectrum of gluten sensitivity that | | | | piece together a very accurate history of the origins |
| is much broader and in need of better diagnostic | | | | of Celiac and gluten sensitivity within a family and |
| definitions. I am an example of someone who is DQ2 | | | | make some very accurate predictions of risks to |
| DQ7 who has normal blood tests for Celiac disease | | | | other family members. |
| but abnormal stool antibody tests and symptoms | | | | Though the lay public and many clinicians are finding |
| that have responded to a gluten-free diet. The strict | | | | the genetic tests helpful, many, including most |
| criteria for diagnosis of Celiac disease by abnormal | | | | physicians, do not understand the genetics of gluten |
| blood tests and a characteristic small intestine biopsy | | | | sensitivity. We are awaiting Dr. Fine's published data |
| showing classic damage from gluten is much narrower | | | | on the significance of stool antibody tests and their |
| than what is being seen clinically. | | | | association to the other DQ types as his lab is the |
| It is becoming obvious to many of us who have | | | | only lab offering the stool antibody tests in the U.S. |
| personal and professional medical experience with | | | | Other Celiac researchers in U.S. have failed to |
| gluten intolerance and Celiac disease that the problem | | | | reproduce his assay but scattered reports in the |
| of gluten sensitivity is much greater and extends | | | | literature are appearing including a recent article in the |
| beyond the high risk Celiac genes DQ2 and DQ8. | | | | British Medical Journal indicating stool antibody testing |
| Traditionally it is reported and believed by many that | | | | is feasible, non-invasive, and using their protocol, |
| if you are DQ2 and DQ8 negative you are unlikelyto | | | | highly specific but not sensitive for Celiac disease in |
| have Celiac disease or ever develop it. This cannot | | | | children. |
| be said with 100% certainty especially since there are | | | | In the meantime, many patients are faced with |
| documented cases of Celiac disease and the skin | | | | whether the failure of traditional blood tests, small |
| equivalent of CD, known as dermatitis herpetiformis | | | | bowel biopsies, and the presence or absence of DQ2 |
| (DH), in individuals who are DQ2 and DQ8 negative. | | | | and DQ8 to diagnose or exclude gluten sensitivity |
| Knowing your DQ specific serotype pattern may be | | | | justifies the uncertainty and added cost of full DQ |
| helpful for several reasons. If you have more than | | | | testing and stool testing. Physicians unfamiliar with this |
| one copy of DQ2 or DQ8 you carry two of the | | | | testing are increasingly being presented with the |
| major genes. For example if you are DQ2/DQ2, DQ2 | | | | results and confused or skeptical pending published |
| DQ8, or DQ8/DQ8, a term Scott Adams of has | | | | results. There also continues to be a lack of |
| dubbed a "super celiac", you may be at much higher | | | | consensus in the medical community regarding the |
| risk for Celiac disease and have more severe gluten | | | | definitions of non-Celiac gluten sensitivity and what |
| sensitivity. Certainly if you are DQ2 and/or DQ8 | | | | tests justify recommendations for gluten-free diet. It |
| positive you are at increased risk for Celiac disease. | | | | is clear though that gluten sensitivity by any criteria is |
| After a single copy of DQ2 or DQ8, it appears DQ7 | | | | much more common than ever thought and a hidden |
| DQ7 might be next highest risk. Dr. Fine has also | | | | epidemic exists. |
| noted some other associations with the DQ patterns | | | | |