August 25, 2014
Dr. Michael L. LeFevre
Dear Dr. LeFevre,
Celiac Disease Foundation’s Medical Advisory Board, together with the Foundation’s Board of Directors, has reviewed the public draft research plan for screening for celiac disease. On behalf of the millions of American with undiagnosed celiac disease represented by Celiac Disease Foundation, we applaud the U.S. Preventive Services Task Force (USPSTF) for its commitment to undertaking this imperative research.
Despite the availability of effective treatment for celiac disease, far too many people with celiac disease in the United States remain undiagnosed or experience a late diagnosis, resulting in poorer health outcomes and posing a substantial burden to both the patient and the U.S. health care system. We strongly encourage the USPSTF to consider the comments of the North American Society for the Study of Celiac Disease (NASSCD) as below.
Marilyn G. Geller, Chief Executive Officer
We, the members of the NASSCD Executive Council, have reviewed the public draft document outlining the key questions to be addressed in the research. We are very pleased that the Agency has committed to undertaking this research, and we believe that it could be of great importance to the community at large as well as people with celiac disease. We would like to respectfully suggest that perhaps the emphasis could include and hopefully focus on individuals who are potentially at high risk of celiac disease. These are individuals with symptoms that could be a presentation of celiac disease as well as individuals at high risk for celiac disease because of some associated disease, family history or other factors (case finding approach). With regard to the issue of the general population of individuals who are without symptoms, the natural history of undiagnosed celiac disease is not yet fully established and as such, we are concerned that conclusions based on current but incomplete data will not serve the purpose intended. Indeed, there are data suggesting that the onset of celiac disease can occur at any age, posing the challenging question of when and at which age general screening should be recommended.
The KQs in the column (on the far right in the table) exclude symptomatic individuals seeking testing for celiac disease. However, this does not address those individuals who are symptomatic and seek medical care, without a prior suspicion of celiac disease or request celiac disease testing. We believe that this is a significant omission. The key gap in our knowledge is what happens to those with undiagnosed disease. While some studies, including ours, have suggested there may be deleterious effects over a long follow-up, there are also data suggesting that individuals who present with celiac disease in later adulthood have sustained irreversible harm. This includes a lost opportunity for health, that is 10-20 years or more of symptoms, bone disease and increased fracture risk that does not reverse with treatment, and those patients who present with malignancies as their first manifestation of celiac disease. These are individuals for which a wait-and-see attitude is not effective. What is not known is how many individuals who have undiagnosed celiac disease never suffer consequences from that condition. There is broad agreement amongst most researchers that an augmented case finding approach for individuals who are at increased risk, either by the nature of their symptoms, or conditions associated with celiac disease, should be strongly considered for testing. We do not consider this testing as screening in the strictest sense, but rather diagnostic or case-based testing. An exception might be in patients with type 1 diabetes without any suggestive symptoms or family members of those with celiac disease, but, even in these circumstances, screening is being done in the context of a high pre-test prevalence.
In the general population, there is already excellent evidence suggesting a rather high prevalence of the disease (1% of Caucasians) and also documentation from prior studies, including data from the NHANES survey, that celiac disease remains undiagnosed in over 80% of individuals. Some recent work from Finland by Kurppa shows that many individuals who are found by screening actually have symptoms at the time of screening and those symptoms recover with treatment. We remain convinced that, even with augmented case finding, the majority of patients with celiac disease will go undetected. We, the representatives of the professionals engaged in the study of celiac disease in North America, respectfully request that the AHRQ include those individuals who have symptoms of celiac disease or are at risk for celiac disease in this proposed research plan. We understand excluding people who have symptomatic celiac disease that are seeking testing for celiac disease from their doctors; there is little question as to the validity of testing them for celiac disease.
Another key question is what to do with people who are already on a gluten free diet who are seeking testing for celiac disease. There is no clear consensus on this situation either.
Rubio-Tapia A, Ludvigsson JF, Brantner TL, Murray JA, Everhart JE. The prevalence of celiac disease in the United States. Am J Gastroenterol 2012 Oct;107(10):1538-44. Doi: 10.1038/ajg.2012.219. PMID: 22850429.
Rubio-Tapia A, Murray JA. Debate: The case for screening: detecting celiac disease hidden below the waterline. AGA Perspectives 2012 Apr/May;8(2):5-6.
Kurppa K, Paavola A, Collin P, Sievanen H, Laurila K, Huhtala H, Saavalainen P, Maki M, Kaukinen K. Benefits of a gluten-free diet for asymptomatic patients with serologic markers of celiac disease. Gastroenterology 2014 May 13. Doi: 10.1053/j.gastro.2014.05.003 [Epub ahead of print]
Rubio-Tapia A, Kyle RA, Kaplan EL, Johnson DR, Page W, Erdtmann F, Brantner TL, Kim WR, Phelps TK, Lahr BD, Zinsmeister AR, Melton LJ, Murray JA. Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology 2009 Apr;137(1):88-93.
Catassi C, Fasano A. Coeliac disease: the debate on coeliac disease screening—are we there yet? Nat Rev GastroenterolHepatol 2014 Au;11(8):457-8.
Catassi C, Kryszak D, Bhatti B, Sturgeon C, Helzlsouer K, Clipp SL, Gelfond D, Puppa E, Sferruzza A, Fasano A. Natural history of celiac disease autoimmunity in a USA cohort followed since 1974. Ann Med. 2010;42:530-8.
Catassi C, Kryszak D, Louis-Jacques O, Duerksen DR, Hill I, Crowe SE, Brown AR, Procaccini NJ, Wonderly BA, Hartley P, Moreci J, Bennett N, Horvath K, Burk M, Fasano A. Detection of Celiac disease in primary care: a multicenter case-finding study in North America. Am J Gastroenterol. 2007;102:1454-60.
Members of the North American Society for the Study of Celiac Disease
Joseph A. Murray, M.D., President
Peter H. R. Green, M.D., President-Elect
Stefano Gaundalini, M.D., Past President and Founding President
Alessio Fasano, M.D., Secretary
Benjamin Lebwohl, M.D., M.S. Treasurer
Sheila E. Crowe, M.D., Councilor at-large
Melinda Dennis, M.S., R.D., L.D.N. Councilor at-large
Chaitan Khosla, Ph.D., Councilor at-large
Edwin Liu, M.D., Councilor at-large
Steven P. Galante, Executive director