Strategies To Increase Detection of Hemochromatosis

  1. Sharon M. McDonnell, MD, MPH;
  2. David L. Witte, MD, PhD;
  3. Mary E. Cogswell, RN, DrPH; and
  4. Rosemarie McIntyre, RN, MPH
  1. From the Centers for Disease Control and Prevention, Atlanta, Georgia; and Laboratory Control, Ltd., Ottumwa, Iowa. Acknowledgments: The following organizations participated in the working group: the American Liver Foundation, the American Medical Association, the British Haemochromatosis Society, the College of American Pathology, the Common Ground Institute for Iron Overload Diseases, the Iron Overload Diseases Association, the National Arthritis Foundation, and the Southern Iron Overload Diseases Association. Requests for Reprints: Sharon McDonnell, MD, MPH, Division of International Health, Mailstop C-08, Centers for Disease Control Prevention, 1600 Clifton Road, Atlanta, GA 30303; e-mail, sem0{at}cdc.gov. Current Author Addresses: Dr. McDonnell: Division of International Health, Mailstop C-08, Centers for Disease Control Prevention, 1600 Clifton Road, Atlanta, GA 30303. Dr. Cogswell: Division of Nutrition and Physical Activity, Centers for Disease Control and Prevention, Mailstop K-25, 4770 Buford Highway, Atlanta, GA 30341. Dr. Witte: Laboratory Control, Ltd., 1005 East Pennsylvania Avenue, Ottumwa, IA 52501. Ms. McIntyre: Division of Training, Epidemiology Program Office, Mailstop D-18, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333. Note: This article is one of a series of articles comprising an Annals of Internal Medicine supplement entitled “Iron Overload, Public Health, and Genetics.” To view a complete list of the articles included in this supplement, please view its Table of Contents.
     
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    Abstract

    As part of the Iron Overload, Public Health and Genetics conference, sponsored by the Centers for Disease Control and Prevention in March 1997, a working group was convened to consider strategies to increase early case detection of hemochromatosis.This group emphasized that the primary public health goal should be to diagnose hemochromatosis before symptoms appear. To reach this goal, education and action need to be targeted to physicians and other health care workers, laboratorians, administrators, payers, and the public.

    Strategies to disseminate updated information and increase early case detection were prioritized according to expected effectiveness.Strategies targeting physicians are 1) to identify national and local physician-leaders and 2) to educate physicians about hemochromatosis in basic, graduate specialty, and continuing medical education. Strategies aimed at the health system are 1) to encourage laboratories to provide the transferrin saturation test as part of routine laboratory panels and 2) to work with policymakers and payers to allow reimbursement for case detection. Finally, public education is recommended to increase lay support for the early diagnosis of hemochromatosis. Attempts to educate the public should be aimed first at persons who receive diagnoses of hemochromatosis in order to ensure that they are properly treated and then at asymptomatic persons who could be screened as part of health appraisals. Although identifying physician-leaders and educating physicians are the highest priorities, physicians should not be targeted at the exclusion of payers and the public. Simultaneous efforts to reach all groups in appropriate ways should be initiated to provide the interest and infrastructure necessary to decrease morbidity and mortality from hemochromatosis.

    Hemochromatosis is underdiagnosed and under-reported [1-7]. Patients with hemochromatosis identified through hospital registries or family studies reported signs and symptoms of the disease (such as arthralgia, abdominal pain, or elevated liver enzyme concentrations) 2.3 to 7.3 years before the disease was diagnosed [8, 9]. Lack of early case detection is a concern because treatment is less effective in patients with significant clinical disease (such as diabetes, cirrhosis, or cardiomyopathy) than in persons who have not developed end-organ disease [7, 10, 11].

    Several major obstacles prevent the timely detection of hemochromatosis. First, until the late 1980s, most basic and specialty medical texts described hemochromatosis as a rare genetic disorder that occurred almost exclusively among white males of northern European ancestry [7, 12-14]. In recent years, the case definition of hemochromatosis has shifted from a focus on advanced symptoms and signs to an emphasis on abnormal results of iron studies in the absence of symptoms [15]. Many physicians, however, may not be aware of this change. In addition, many signs and symptoms of hemochromatosis can easily be attributed to other, more common medical conditions [7]. Most recently, the discovery of the HFE gene with two mutations strongly associated with iron overload has generated enormous interest in and a variety of studies of the genetics of hemochromatosis [16]. However, experts disagree on how to define a “positive” result on a genetic test for hemochromatosis, leaving primary care physicians without clear guidance.

    Because policymakers and payers are unfamiliar with hemochromatosis, payment for early testing and treatment often is not provided. Lack of payment for screening in the absence of symptoms is a second obstacle to timely detection. Policymakers and payers need to be informed about the value of detecting and treating hemochromatosis because lack of reimbursement can be a disincentive to screening [16-23]. Concerns about the benefit of early treatment (which may not be clear) in the large number of asymptomatic patients must be balanced against the harm that may result from discrimination by health and life insurers once a diagnosis is established. This potential discrimination may present another barrier to case detection [24, 25].

    Finally, the public needs to be better informed about hemochromatosis. The lay press has increasingly written about hemochromatosis, encouraging the public to seek screening as part of routine health care and informing them that hemochromatosis may be the cause of numerous symptoms [26, 27]. As a result, physicians are under pressure to learn about hemochromatosis as more patients demand to be evaluated for the condition. The integration of case detection into health care for adults will require convincing health care providers and payers that routine screening is worthwhile and providing the infrastructure necessary to support screening with the transferrin saturation test.

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    Methods

    As part of a conference on Iron Overload, Public Health and Genetics sponsored by the Centers for Disease Control and Prevention and held on 3-5 March 1997, a working group was convened to identify strategies to increase hemochromatosis case detection and prevent subsequent iron overload disease. The group consisted of hemochromatosis specialists, public health professionals, representatives of physician specialty and patient advocacy groups, the media, and others. Like the College of American Pathologists [7], the working group expressed the belief that diagnosing hemochromatosis before the development of symptoms should be the main public health goal. This report is based on the recommendations of the working group who, by using nominal group process, described strategies that should increase hemochromatosis case detection.

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    Strategies

    The working group selected three target groups and identified strategies with which to reach them (Figure 1). The highest-priority group is physicians and other health care providers; the strategies for this group are to identify physician-leaders (both national and local) as advocates for hemochromatosis case detection and to educate physicians about hemochromatosis in basic, specialty, and continuing medical education. The second group is health system workers, such as laboratorians and administrators; policymakers; and payers. Strategies for this group are to encourage laboratories to provide the transferrin saturation test as part of various routine chemistry panels and to encourage policymakers and payers to allow reimbursement for case detection and treatment, particularly in asymptomatic patients. Finally, information must be disseminated to the public to increase support for the early diagnosis of hemochromatosis and to encourage people to be tested for the disease. Persons with a diagnosis of hemochromatosis or with symptoms and other medical conditions compatible with the disease are a higher priority for education in the short term than are asymptomatic persons who could be tested as part of health appraisals. Special attention should be paid to testing the appropriate family members of patients who receive a diagnosis of hemochromatosis. Although the working group prioritized the three target groups, a simultaneous effort to reach all three groups is likely to be most effective because each group affects the motivation, knowledge, and behavior of the other two [17, 28].

    Figure 1.
    View larger version:
    Figure 1. Strategies to increase early detection of hemochromatosis.
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    Targeting Health Care Providers

    Physician Leadership and Education

    To date, no comprehensive study of the knowledge, attitudes, and practices of physicians with respect to hemochromatosis has been done. One convenience survey among community physicians revealed the prevailing belief that hemochromatosis is rare and a lack of familiarity with the diagnostic criteria for and clinical manifestations of the disease [29]. Researchers in hemochromatosis screening programs report that skepticism by physicians about the prevalence of the condition is a serious barrier to effective screening [30, 31]. In addition, in focus groups run by the Centers for Disease Control and Prevention and in reports by advocacy groups, patients with hemochromatosis reported that they were unable to convince their physicians to initially consider hemochromatosis as a diagnosis and that this delayed their treatment [32]. This supports the view that failure to detect hemochromatosis is due in part to a lack of up-to-date, clinically relevant information among practitioners, and it illustrates the importance of educating primary care providers as a disease prevention strategy [17-20, 28].

    Creating Physician-Leaders

    A concerted hemochromatosis case-detection program will require a large-scale information campaign that is aimed at physicians and garners support from public health and physician organizations. The broad range of symptoms associated with hemochromatosis makes it necessary to include both primary care practitioners (such as family practitioners and internists) and selected specialists (such as rheumatologists, hematologists, hepatologists, gastroenterologists, endocrinologists, and cardiologists) in this campaign [7].

    National physician organizations have already become advocates of early detection of hemochromatosis. The American Medical Association [33] recently adopted a resolution recommending that information about hemochromatosis and iron overload be disseminated among appropriate specialty societies and voluntary health agencies. Other physician groups, such as the College of American Pathologists, the American Society of Hematologists, and the American College of Physicians-American Society of Internal Medicine, have all begun to develop practice guidelines or educational programs to assist both specialists and primary care physicians [7].

    Applying such guidelines in clinical practice is the next step. Local physician-leaders can effectively increase case detection for hemochromatosis by adopting clinical guidelines in local practice and applying them in the screening of individual patients [20, 28, 34-39]. In fact, local physician-leaders have already been effective in initiating screening programs and in raising state and national resolutions to increase hemochromatosis detection and prevent discrimination against patients by insurers [30, 40].

    Developing Materials for Basic, Graduate, and Continuing Medical Education

    Up-to-date information about hemochromatosis, presented as a series of basic messages on disease prevalence, morbidity and mortality, early diagnosis, and management (Table 1), needs to be widely disseminated and integrated into the initial and ongoing medical education of physicians. Successful clinical application of the information learned from education programs will probably depend on the credibility of the source of the information or guidelines, ongoing reinforcement of the material, and the perceived practicality of the material [17, 19, 50-53]. A relatively simple strategy is to be sure that questions about hemochromatosis are included at all levels of the National Board of Medical Examination and in medical specialty certifying examinations. Basic and graduate medical education strategies, more so than continuing medical education courses, should be the initial focus of hemochromatosis education: The earlier an educational message is given in the training of health professionals, the more effectively it influences clinical practice [18, 19, 54]. Therefore, basic medical texts should be revised to ensure that they contain practical, current information; reinforcing the information and modeling the desired practice patterns in medical school and residency training are also essential [34, 35, 38].

    View this table:
    Table 1. Key Education Messages about Hemochromatosis

    The current primary vehicle for education about hemochromatosis is continuing medical education, but this is not a reliable method of changing physician practices [34, 35, 54]. Nonetheless, the effect of continuing medical education courses can be maximized if these courses provide high-quality, scientific information through a reliable, respected source in an environment that encourages active learning and problem solving [28, 54]. To this end, continuing medical education courses are being created that will contain key information and will use slide sets, primers on genetics, fact sheets on hemochromatosis, and computer and video presentations [30].

    The College of American Pathologists [7] recently produced practice guidelines on hemochromatosis that can serve as a comprehensive source of content for educational materials. However, the rapid appearance of new information on genetics in hemochromatosis requires the frequent updating of educational materials in this area. Providing individual feedback to physicians who diagnose hemochromatosis and reporting their success stories in staff newsletters or on rounds may encourage screening for this disease [30, 54].

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    Targeting Health System Workers, Including Policymakers and Payers

    Encouraging Laboratories To Include Transferrin Saturation Testing in Routine Panels

    Laboratorians and clinical pathologists are an attractive target because they are in a position to make the recommended screening test for hemochromatosis (the transferrin saturation test) available at low cost to many patients [55]. For example, this test can be included in existing, routine laboratory panels, and abnormal values can be flagged to assist physicians in recognition and follow-up (repeated routine screening with transferrin saturation tests over a period of years, however, is not necessary in most patients if the initial test result is negative) [56]. Transferrin saturation test standards and quality control must be established for the estimated 150 000 laboratories nationwide, as was done for the national cholesterol awareness campaigns aimed at the reduction of cardiovascular disease [30, 57]. In turn, increased emphasis on screening with the transferrin saturation test will encourage improved test performance and reduce the current laboratory variation of 8% to 10% [57, 58]. Physicians may be able to address quality control in their own communities by encouraging their clinical laboratories to begin proficiency testing if they have not already done so [30].

    Educating Policymakers and Payers

    Efforts to increase detection of patients with hemochromatosis must take into account existing administrative and reimbursement policies. The policymakers and payers who make and enforce these policies must be informed of the benefits of early hemochromatosis screening through their own literature and conferences [17, 18, 20-2250, 51]. In addition, the key educational messages listed in Table 1 must be provided in ways that are valued by this target group (for example, through cost-effectiveness analyses and feasibility studies). To date, analyses of screening program strategies in which all adults in a population are tested for hemochromatosis indicate that treatment instituted before the onset of severe symptoms (such as hepatic fibrosis, diabetes, or cardiomyopathy) is cost-effective-indeed, often cost-saving [59, 60]. Comprehensive analyses have not yet included the financial or social implications of DNA testing in screening or case detection.

    Disseminating current guidelines and the results of screening programs to policymakers and payers may increase reimbursement for hemochromatosis testing. However, guidelines will be counterproductive if they are not practical or supported by the evidence [20, 25, 28]. Operations research will be helpful in defining the feasibility of hemochromatosis screening in clinical practice [30]. Case detection for hemochromatosis among asymptomatic persons is not currently part of routine patient care, but it could be added. The unanswered question for payers will be, What is the added health benefit of early treatment to the large number of asymptomatic persons? The potential harm of early diagnosis, in the form of insurance or employment discrimination, is an important concern and requires more study [24, 61, 62].

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    Targeting the Public

    The working group identified three subpopulations for public education and motivation: persons who have a diagnosis of hemochromatosis, persons in the early stages of disease who have not received a diagnosis, and asymptomatic persons who could be tested for hemochromatosis as part of a health appraisal. Through the strategies described for targeting physicians and policymakers, information can be made available to patients who receive a diagnosis of hemochromatosis, their families, and the institutions that may discriminate against them [24, 30, 61-63]. Patients will need information on diet, alcohol use, and other behaviors and help in under-standing therapy [49]; they will also need information and advocates to help them combat discrimination, especially by health and life insurance companies and employers [30, 47, 63].

    A combination of media coverage, educational materials, and advertising can be used to reach and educate persons at high risk for hemochromatosis (such as relatives of patients with hemochromatosis or persons with specific symptoms) about the need to be tested. These avenues can also be used to inform the general public about the testing of asymptomatic persons so that motivation for early case detection is increased. Educating the public requires collaborating with the media so that the most current information is responsibly disseminated [28]; as with all screening programs, the line between the creation of appropriate encouragement and the creation of excessive anxiety is a narrow one. The cholesterol “know your number” concept could be adapted into a “know your iron status” campaign. This could help detect the undiagnosed cases among the 3 to 8 per 1000 U.S. persons at risk for iron overload, the 16 to 150 per 1000 U.S. persons who are iron deficient, and numerous other persons with undiagnosed liver disease and hematologic disorders [30, 64, 65]. The Internet has proven to be a useful and valuable method of informing and educating patients: In a recent survey, nearly 10% of patients said that they relied on the Internet as an important source of information about iron overload (McDonnell SM, Preston B, Jewell SA, Barton JC, Edwards CQ, Adams PC, et al. Natural history of iron overload among patients with hemochromatosis. In preparation). Future goals for patient advocacy groups and physicians will include ensuring that Internet sites are visible, accessible, and high-quality.

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    Conclusions

    Lack of scientific information on the benefit of hemochromatosis case detection is the greatest single obstacle to screening for hemochromatosis. To support early case detection, national and local physician-leaders can act as catalysts to assist physicians in their communities [19, 39]. Core information about hemochromatosis should be disseminated to physicians and other health care providers, policymakers and payers, patients with hemochromatosis, and the general public. In planning the next steps of an overall approach to prevent and control iron overload due to hemochromatosis, it will be necessary to work with physicians as they integrate case detection into their practices and follow patient outcomes [19, 38, 50]. Integrating case detection into clinical practice will require the support of those who pay for health care and those who receive it. As information is disseminated, it will be increasingly important that other strategies be initiated because information dissemination is only the first of a complex series of activities designed to ensure that such information is acted on [37, 53]. Setting specific objectives for each of these strategies will allow evaluation of the effectiveness of particular activities and will help guide future efforts.

    Many members of the working group expressed the belief that sufficient evidence exists to support widespread screening for hemochromatosis with the serum transferrin saturation test, but this view is not universal. No one disagrees, however, that improved detection of hemochromatosis would be beneficial. The strategies outlined here are the working group's suggestions for beginning to strive toward that goal.

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