Objective:

To identify the patient-reported symptoms of greatest importance to individuals with mitochondrial disease.

Background:

There is a need to better understand which symptoms have the greatest impact on those who live with mitochondrial disease.  

Design/Methods:

In this study, we conducted semi-structured, qualitative interviews with adults with mitochondrial disease to identify the symptoms with the greatest impact on their daily lives. These interviews were transcribed, coded, and analyzed using a qualitative framework technique to identify symptoms which potentially have an importance in the lives of patients with mitochondrial disease. 

Results:

Semi-structured interviews were conducted with 24 individuals across eight different subtypes of mitochondrial disease. Participants from 14 US states were represented in the cohort. The average age of participants was 54.5 years old (range 32-75). Of these participants, 54% identified as female (n = 13), 12.5% as Hispanic (n = 2), and 25% as active or former members of the military (n = 6). Qualitative coding yielded 2,883 direct patient quotes representing 501 different symptoms. Participants most frequently mentioned issues related to fatigue (114 quotes), muscle weakness (98 quotes), others not understanding their disability (81 quotes), frustration (63 quotes), and energy depletion (62 quotes) as being relevant and important to their lives.  

Conclusions:

Through the patient perspective, it is evident that the symptomatic burden of mitochondrial disease involves a variety of issues including those related to physical, emotional, social, and disease-specific health. A clear understanding of the symptoms of greatest importance to patients with mitochondrial disease will help to better inform future therapeutic development in this population.