Discipline of Social and Administrative Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia, Minden, Penang, Malaysia.
Pharmaceutical Services Division, Ministry of Health Malaysia, Petaling Jaya, Selangor, Malaysia.
PLoS One. 2020 Apr 2;15(4):e0230850. doi: 10.1371/journal.pone.0230850. eCollection 2020.
Rare diseases are often underdiagnosed, and their management is frequently complicated by a lack of access to treatment and information about the diseases. To allow for better policy planning, we sought to examine the current status of managing rare diseases in Malaysia.
This study was conducted in two phases. In the first phase, we triangulated information from reviews of journal publications, documents from the Malaysian government and in-depth interviews among selected key healthcare stakeholders in Malaysia. The second phase was designed as a cross-sectional survey to estimate the number of cases and treatment coverage for rare diseases in Malaysia.
Malaysia has no official definition of rare disease yet but currently in the process of reviewing them for Malaysia. There are 13 rare disease specialists and a dozen medical doctors in genetic clinics around Malaysia, mainly in public health facilities. From the survey, 1,249 patients were diagnosed with rare diseases in public hospitals. Only 60% received their medications or supplements, and the rest continued with symptomatic treatment.
Generally, Malaysia has made significant progress in the management of rare diseases, but there are still opportunities for development in critical areas. Ultimately, if all healthcare providers, government, society, and politicians work together to manage rare diseases, we will see an improvement in patient outcomes.
罕见病常常被漏诊，其治疗和疾病信息的获取也常常受到限制。为了更好地制定政策，我们旨在调查马来西亚罕见病管理的现状。
本研究分两个阶段进行。第一阶段，我们综合了期刊文献综述、马来西亚政府文件以及马来西亚选定的关键医疗保健利益相关者的深入访谈中的信息。第二阶段是横断面调查，旨在估计马来西亚罕见病的病例数和治疗覆盖率。
马来西亚尚未正式定义罕见病，但目前正在对其进行审查。马来西亚有 13 名罕见病专家和十几名遗传诊所的内科医生，主要在公共卫生机构。从调查中，有 1249 名患者在公立医院被诊断为罕见病。只有 60%的患者接受了药物或补充剂治疗，其余患者继续接受对症治疗。
总体而言，马来西亚在罕见病管理方面取得了重大进展，但在一些关键领域仍有发展空间。最终，如果所有医疗保健提供者、政府、社会和政治家共同努力管理罕见病，我们将看到患者结局的改善。
