Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
CEEOR s.r.o., Prague, Czechia.
Orphanet J Rare Dis. 2024 Aug 30;19(1):318. doi: 10.1186/s13023-024-03329-0.
Leber hereditary optic neuropathy (LHON) is the most commonly diagnosed mitochondrial disorder, resulting in colour vision abnormalities and rapid but painless deterioration of central vision. While numerous studies have assessed the impact of LHON on the quality of life (QoL) of LHON patients, the financial impact of the disease remains unexplored. This study attempts to calculate both the direct non-medical costs and the indirect costs associated with productivity losses experienced by people with LHON and their unpaid caregivers in Slovenia, in addition to assessing their QoL. Due to the rarity of the disease, the study involved a small sample size, which is important to note for interpreting the results.
The analysis was conducted on nine adult participants diagnosed with LHON, representing one-third of the total number of known Slovenian patients with this condition. To thoroughly assess the economic and social impact of LHON, tailored questionnaires were designed to collect information on demographics, socioeconomic status, LHON severity, and associated non-medical and indirect costs.
The mean age of the study participants was 48.8 years (SD 13.3; n = 9). The annual productivity loss attributable to LHON, taking both absenteeism and relative presenteeism into account, was calculated to be EUR 11,608 per person affected. The mean VFQ-25 score, a measure of vision-related quality of life, for adult LHON patients was 30.4 (SD 12.9).
The findings highlight the significant economic and social burden of LHON on patients and their families. Ensuring prompt, accurate diagnosis, access to treatment, financial support, and psychological counselling and services are critical to helping individuals cope with and mitigate the profound challenges of vision loss and living with LHON.
莱伯遗传性视神经病变（LHON）是最常见的诊断线粒体疾病，导致色觉异常和中央视力迅速但无痛恶化。虽然许多研究已经评估了 LHON 对 LHON 患者生活质量（QoL）的影响，但该疾病的经济影响仍未得到探索。本研究试图计算斯洛文尼亚 LHON 患者及其无偿照顾者的直接非医疗费用和与生产力损失相关的间接费用，此外还评估了他们的 QoL。由于该疾病的罕见性，该研究的样本量较小，这对于解释结果非常重要。
该分析针对 9 名成年 LHON 患者进行，占已知患有这种疾病的斯洛文尼亚患者总数的三分之一。为了彻底评估 LHON 的经济和社会影响，专门设计了调查问卷，以收集人口统计学、社会经济状况、LHON 严重程度以及相关非医疗和间接费用信息。
研究参与者的平均年龄为 48.8 岁（SD 13.3；n=9）。考虑到旷工和相对在职缺勤，归因于 LHON 的年生产力损失为每人 11608 欧元。成年 LHON 患者的平均 VFQ-25 评分（衡量与视力相关的生活质量的指标）为 30.4（SD 12.9）。
这些发现强调了 LHON 对患者及其家庭的重大经济和社会负担。确保及时、准确的诊断、获得治疗、经济支持以及心理辅导和服务，对于帮助个人应对和减轻视力丧失和 LHON 生活的巨大挑战至关重要。
