ABSTRACT
Introduction: Leber hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease causing dyschromatopsia and progressive central visual loss that is subacute in progression and painless. Several studies have been published assessing QoL in patients with LHON, but no estimate of the economic burden has been reported to date. This study aims to quantify direct non-medical and indirect costs (productivity loss) incurred by LHON patients and their informal caregivers in Czechia and Slovakia, as well as to assess their quality of life. Methods: The study was performed in 27 adults and children with LHON. To determine the socioeconomic burden of LHON, separate questionnaires for adults, children, and their parents were developed, including demographic and socioeconomic data. The following data were collected: age, education, family size, severity of LHON, non-medical direct and indirect costs of LHON. Results: The mean age of adult respondents was 36.1 years (SD 13.1; n = 21). The total cost of absenteeism was EUR 1003 per person/year in adult employees, and EUR 2711 per person/year in children's parents. The productivity loss as a consequence of LHON due to combined relative absenteeism and relative presenteeism was estimated at EUR 9840 per an adult patient/year, and EUR 6298 per a parent/year, respectively. The mean cost of informal care was estimated at EUR 4502 (SD 4772; n = 6) per person/year. The mean VFQ-25 score for adult patients with LHON was 43.47 (SD 15.86). Conclusion: The results of this study clearly show that patients with LHON and their families face an extensive socioeconomic burden related to this rare disease. Early, timely and appropriate access to diagnosis, treatment, and reimbursement decisions, but also to psychological counselling and services may help the patients and their relatives adapt and cope with the challenging aspects of vision loss and life with the disease.
ABSTRACT
Dyslipidemias are defined as a wide range of abnormalities of the lipid profile. Treatment guidelines recommend aiming at lowering LDL-C. We investigated the adherence of Czech cardiologists to the dyslipidaemia treatment guidelines, especially in the management of patients with high and very high cardiovascular risk. In this retrospective cross-sectional multicentric study data from medical records of 450 adults with ASCVD, enrolled between June 2021 and January 2022, were analysed. Demographics, clinical outcomes, medical history, LLT treatment and other medications were collected. The physicians were to include patients at a very high risk of ASCVD and to complete a general questionnaire on their personal therapeutic preferences. Objectively assessed, only 80% of total patients (N = 450) enrolled in the study were at very high risk of ASCVD, and 12.7% of patients were at high risk of ASCVD, respectively. In total, 55 (13.1%) patients were diagnosed with familial hypercholesterolemia, and 39.1% of them had a positive family history of ASCVD. Generally, only 20.5% of patients reached the 2019 LDL-C goals- 19.4% of very high risk patients and 28.1% of high risk patients, respectively. 61% of the physicians preferred a slow and careful up-titration of the dose, which is contradictory to the guidelines. Only 17% of the physicians increased the statin dose or added/combined/changed the treatment to achieve the LDL-C goals as soon as possible. Surprisingly, in up to 61.5% of patients at very high risk who did not meet the LDL-C goals, their physicians stated subjective satisfaction with the treatment and considered no change needed. Among very high and high risk patients receiving lipid-lowering therapy, with high treatment adherence, the LDL-C goal attainment is very low and LLT utilization is rather sub-optimal. Improving observance of the guidelines by physicians bears a substantial potential for LDL-C goal attainment and thus improving overall benefit for patients for no additional costs.
