Objective Leber Hereditary Optic Neuropathy (LHON) is the most common of the primary mitochondrial DNA (mtDNA) disorders. The aim of this study was to quantify the economic burden associated with LHON patients from a social perspective in Italy.

Method A survey on a sample of LHON patients was conducted. Data collection was carried out through direct interviews with patients or caregivers. The collected data were subsequently inserted into an economic model to estimate the average cost per patient with LHON in terms of direct costs incurred by patient and in terms of indirect costs. The Human Capital Approach was used to estimate indirect costs (absenteeism, presentism and unemployment). The overall economic burden for patients with LHON in Italy was estimated by attributing the average cost per patient obtained from the sample to the number of patients with LHON in Italy.

Results Information was collected for 87 patients (69% male). The mean age of the patients was about 39 years (standard deviation 15.3); the mean age at diagnosis was 28 years (standard deviation 16.1). 49.4% of the patients were employed, while 18.4% were unemployed due to disease. The average annual expenditure incurred by a patient with LHON was estimated equal to € 1,520.3 in terms of direct costs (€ 603.5 for out-of-pocket expenditure and € 916.9 for direct non-healthcare costs) and it was estimate equal to € 5,690.7 in terms of indirect costs (€ 556.5 for patient’s absenteeism, € 1,037.7 for patient’s presentism, € 3,288.5 for patient’s unemployment and € 808.0 for caregiver’s absenteeism). An overall economic burden associated with LHON patients in Italy of about € 18.9 million (about 80% attributable to indirect costs) was estimated.

Conclusion Our study can be a valid support for decision makers to plan healthcare services to be provided to patients affected by LHON in Italy.

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Key words: Leber hereditary optic neuropathy, indirect costs, out-of-pocket expenses, economic burden