Population-based, cross-sectional assessment of dietary patterns and supplement use in mitochondrial disease

Abstract

Background & aims: Mitochondrial diseases (MITO) are a large group of rare genetic conditions that manifest in high-energy organ systems and impair mitochondrial oxidative phosphorylation. Therapeutic management often involves the use of dietary supplements and special dietary patterns.

Methods: A questionnaire assessing dietary patterns and supplement use was administered to diagnosed patients or their surrogate caregivers through various MITO-related patient and advocacy organizations and social media internationally from March to September 2021. Secondary outcomes assessed information available to participants regarding supplements, and factors influencing use, knowledge, and adherence to dietary supplements. Supplements were classified using standard criteria. A total of 236 responses were used for the analysis.

Results: The average number of supplements taken among patients was 7.0 (±5.0 SD) with over 70% reporting taking more than 4 supplements. Sixty percent of respondents reported dietary restrictions, while 14% were tube fed or parenterally fed. Uncertainty regarding supplement cost, use, and availability were a significant source of stress for most participants with 61% of patients reporting no financial coverage for supplementation and 45% reporting no coverage for special dietary needs.

Conclusions: Adequate scientific evidence for the widespread use of dietary supplements in MITO is lacking. As a result, there is excessive supplementation in MITO that imposes significant stress on patients. Future studies are needed to evaluate the efficacy of specific supplements as well as special dietary patterns to enable physicians and pharmacists to provide evidence-based recommendations to patients to reduce symptoms, as well as the emotional and financial strain associated with supplement use.

Keywords: Dietary supplements; Mitochondrial disease; Nutrition; Rare disease; Survey.