Market Access & External Affairs, Roche Farmacêutica Química, Lda, Estrada Nacional 249 - 1, 2720-413, Amadora, Portugal.
Centro de Referência de Coagulopatias Congénitas do Centro Hospitalar Universitário S. João, EPE, Porto, Portugal.
Orphanet J Rare Dis. 2019 Sep 4;14(1):211. doi: 10.1186/s13023-019-1175-5.
Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.
Data were extracted from a Portuguese expert panel, from official data and national literature. Annual costs were calculated from the perspective of the society including direct and indirect costs. Unitary costs were extracted from 2017 national official sources and are expressed in euros. Health burden was expressed in disability adjusted life years (DALYs) based on incidence and quality of life questionnaires. Estimates are presented for the overall population and stratified by severity, age group (< 18 years vs. adults) and inhibitor status.
The yearly average cost per patient is estimated to range from €39,654/patient without inhibitors and €302,189/patient with inhibitors, representing a 7.6 fold difference. Amongst patients without inhibitors, the annual average cost was €401 in mild, €5327 in moderate and €85,805 in severe disease. Average cost per child and adult is €72,287 and €51,737, respectively. Direct costs represent approximately 95% of all costs, of which almost the totality accounts for clotting factor replacement therapy and bypassing agents. The total annual cost of haemophilia A for the Portuguese society was estimated to be €42,66 million, one third of which was related to the treatment of patients with inhibitors. It is estimated that haemophilia A is responsible for 3878 DALYs in Portugal (497 DALYs in mild, 524 DALYs in moderate, 2031 DALYs in severe patients without inhibitors and 784 DALYs in patients with inhibitors) for the cohort of 2017 (750 patients) or 5.2 DALY/patient during lifetime.
Despite being rare, the economic and health burden of haemophilia A is remarkable. The main cost driver is clotting factor replacement therapy. Moreover, haemophilia A is more costly in children than in adults and rises exponentially with disease severity.
甲型血友病是一种遗传性出血性疾病，以前被认为是罕见的和慢性的。这种疾病在葡萄牙的负担尚不清楚。本研究的目的是估计葡萄牙甲型血友病的年成本和健康负担。
数据来自葡萄牙专家小组、官方数据和国家文献。从社会角度计算了年度成本，包括直接成本和间接成本。单位成本取自 2017 年国家官方资料，以欧元表示。根据发病率和生活质量问卷，用残疾调整生命年（DALYs）来表示健康负担。根据严重程度、年龄组（<18 岁与成人）和抑制剂状态对总体人群进行了分层，并对估计值进行了呈现。
估计每名患者的年平均费用范围为无抑制剂患者 39654 欧元/人，有抑制剂患者 302189 欧元/人，相差 7.6 倍。在无抑制剂的患者中，年平均费用分别为轻度疾病 401 欧元，中度疾病 5327 欧元，重度疾病 85805 欧元。儿童和成人的平均费用分别为 72287 欧元和 51737 欧元。直接费用约占所有费用的 95%，其中几乎全部用于凝血因子替代疗法和旁路药物。估计葡萄牙社会甲型血友病的年总成本为 4266 万欧元，其中三分之一与抑制剂患者的治疗有关。估计甲型血友病在葡萄牙造成了 3878 个 DALYs（轻度患者 497 个，中度患者 524 个，无抑制剂的重度患者 2031 个，有抑制剂的患者 784 个），2017 年队列（750 例患者）或终身 5.2 DALY/患者。
尽管甲型血友病较为罕见，但它的经济和健康负担却很显著。主要的成本驱动因素是凝血因子替代疗法。此外，血友病 A 在儿童中的成本高于成人，并且随着疾病严重程度呈指数级增长。
