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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68407700%3A21460%2F24%3A00374580" target="_blank" >RIV/68407700:21460/24:00374580 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1186/s13023-024-03329-0" target="_blank" >https://doi.org/10.1186/s13023-024-03329-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-024-03329-0" target="_blank" >10.1186/s13023-024-03329-0</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30301 - Social biomedical sciences (includes family planning, sexual health, psycho-oncology, political and social effects of biomedical research)

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

—

Svazek periodika

19

Číslo periodika v rámci svazku

318

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

—

Kód UT WoS článku

001303624100002

EID výsledku v databázi Scopus

2-s2.0-85202749462