Department of Clinical Laboratory Technology, Faculty of Medical Science, Juntendo University.
Division for Health Service Promotion, The University of Tokyo.
J Atheroscler Thromb. 2024 May 1;31(5):501-519. doi: 10.5551/jat.RV22016. Epub 2024 Mar 26.
Transitional medicine refers to the seamless continuity of medical care for patients with childhood-onset diseases as they grow into adulthood. The transition of care must be seamless in medical treatment as the patients grow and in other medical aids such as subsidies for medical expenses in the health care system. Inappropriate transitional care, either medical or social, directly causes poorer prognosis for many early-onset diseases, including primary dyslipidemia caused by genetic abnormalities. Many primary dyslipidemias are designated as intractable diseases in the Japanese health care system for specific medical aids, as having no curative treatment and requiring enormous treatment costs for lipid management and prevention of complications. However, there are problems in transitional medicine for primary dyslipidemia in Japan. As for the medical treatment system, the diagnosis rate remains low due to the shortage of specialists, their insufficient link with generalists and other field specialists, and poor linkage between pediatricians and physicians for adults. In the medical care system, there is a mismatch of diagnostic criteria of primary dyslipidemias between children and adults for medical care expense subsidization, as between The Program for the Specific Pediatric Chronic Diseases and the Program for Designated Adult Intractable Diseases. This could lead some patients subsidized in their childhood to no longer be under the coverage of the aids after transition. This review intends to describe these issues in transitional medicine of primary dyslipidemia in Japan as a part of the efforts to resolve the problems by the Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan.
转化医学是指儿童期发病的患者在成长为成年人的过程中医疗服务的无缝连续。随着患者的成长和医疗补助等其他医疗辅助措施在医疗保健系统中的变化，医疗治疗和其他医疗补助必须无缝衔接。医疗或社会方面的过渡护理不当，直接导致许多早发性疾病的预后较差，包括由遗传异常引起的原发性血脂异常。许多原发性血脂异常在日本的医疗保健系统中被指定为特定医疗补助的难治性疾病，因为没有治愈方法，并且需要大量的血脂管理和预防并发症的治疗费用。然而，日本在原发性血脂异常的转化医学方面存在问题。就医疗体系而言，由于专家短缺、他们与普通医生和其他领域专家的联系不足，以及儿科医生和成人医生之间的联系不畅，诊断率仍然很低。在医疗保健系统中，儿童和成人的原发性血脂异常的诊断标准存在差异，这导致一些在儿童时期获得补助的患者在过渡后不再符合补助的条件。本综述旨在描述日本原发性血脂异常转化医学中的这些问题，作为日本厚生劳动省罕见和难治性疾病研究计划下原发性血脂异常委员会努力解决这些问题的一部分。
