Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.

INTRODUCTION: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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.

Adherence to disease-modifying therapies and attitudes regarding disease in patients with multiple sclerosis.

Although currently there is no cure for MS the course of the disease can be influenced by disease modifying therapy (DMT). For therapy to be sufficiently efficient, it is crucial that patients take their medication regularly as prescribed. Adherence describes the extent to which a patient acts in accordance with the prescribed timing, dosing, and frequency of medication administration. To date, there are no known data about adherence rates among patients with MS in Slovenia. We wanted to assess adherence in patients with MS, who are treated with first line DMTs and discover reasons for non-adherence. A number of 451 patients were invited to participate. They received two questionnaires via post mail. The adherence rate and putative reasons for non-adherence were assessed by the use of standardized self-report Multiple Sclerosis Treatment Experience Questionnaire (MSTEQ). Patients' attitudes regarding disease, therapy and relationship with their physician were assessed by another questionnaire. The analysis of results included 299 patients. Among the patients 18.5% missed at least one medication dose in the past 28 days. Patients taking Avonex were significantly more adherent then patients on other DMTs (p=0.005). Our study showed a higher then expected adherence among Slovenian patients with MS (81.5%). Our research did not confirm the influence of side effects or patients' attitudes regarding illness and therapy on adherence. However we found unexpectedly high percentage (71.8%) of patients belief that psychological factors are involved in MS aetiology.