COST EFFECTIVE HEMOCHROMATOSIS SCREENING IN PRIMARY CARE

初级保健中具有成本效益的血色病筛查

• 批准号: 2236147
• 负责人: PRADYUMNA D PHATAK
• 金额: $ 27.62万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-03-01 至 1997-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2236147
• 关键词: age difference; disease /disorder proneness /risk; epidemiology; gender difference; health care cost /financing; hereditary hemochromatosis; human subject; inborn metabolism disorder diagnosis; magnetic resonance imaging; mass screening; patient care; primary care physician; racial /ethnic difference

Hereditary hemochromatosis (HH) is the most common inherited disorder among Caucasians with an estimated frequency as high as 8 per 1000. Affected individuals absorb excessive amounts of dietary iron and develop progressive accumulation of tissue iron stores with consequent organ dysfunction including hepatic cirrhosis, diabetes mellitus, congestive heart failure, arthropathy and impotence. Early diagnosis and institution of phlebotomy treatments will prevent disease manifestations and normalize life expectancy. HH is therefore a natural target for the development of a routine screening strategy. We have already demonstrated the favorable cost-effectiveness ratio of adopting such a screening strategy among thirty year old Caucasian males.(1) However, several important questions remain to be answered before general recommendations regarding screening for HH can be made to primary care practitioners. First, we need to validate our model by confirming disease prevalence among Caucasian males in the primary care setting. Second, prevalence rates need to be determined for females, for other races, and for different age groups in order to determine who should be screened for the disease and at what age. Thirdly, an optimal screening strategy needs to be developed that will identify affected individuals without too many false positive results and will avoid unnecessary invasive procedures. This strategy may vary depending on age, sex and race. Finally, the incidence of subclinical disease manifestations among individuals identified by screening and the risk of developing disease manifestations over the life times of these individuals need to be clarified. The answers to these questions will enable us to determine with greater confidence the relative effectiveness of a screening strategy for HH and will clarify for primary care practitioners which of their patients should be screened for this disorder.

遗传性血色素沉着症（HH）是最常见的遗传疾病 在估计频率高达每1000个8的高加索人中。 受影响的个体吸收过多的饮食铁并发展 随之而来的组织铁储存的逐步积累 功能障碍包括肝肝硬化，糖尿病，充血 心力衰竭，关节炎和阳ot。早期诊断和机构 放血术治疗将预防疾病表现并正常化 预期寿命。 因此，HH是开发的自然目标 常规筛选策略。我们已经证明了有利的 成本效益的比率是采用这种筛选策略 30岁的白人男性。（1）但是，有几个重要问题 关于筛查的一般建议，请继续回答 因为HH可以向初级保健从业人员制作。 首先，我们需要 通过确认高加索男性的疾病患病率来验证我们的模型 在初级保健环境中。其次，患病率必须为 确定女性，其他种族以及针对不同年龄段 为了确定应筛选谁的疾病和在哪个年龄。 第三，需要制定最佳筛选策略，将 识别受影响的人，没有太多的假阳性结果， 将避免不必要的入侵程序。 该策略可能会有所不同 取决于年龄，性别和种族。最后，亚临床的发生率 通过筛查和 在这些生命的时间内发展疾病表现的风险 个人需要澄清。 这些问题的答案将 使我们能够更加自信地确定相对有效性 HH的筛查策略，并将澄清初级保健 从业者应为此筛选他们的患者 紊乱。