Abstract
BackgroundMitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored.MethodsSeventy-two out of the 122 invited adult patients with m.3243A > G mutation completed online standardized questionnaires on quality of life, functional impairment, fatigue and mental health as assessed by the RAND-SF36, the Sickness Impact Profile (SIP), the Checklist Individual Strength (CIS) and the Hospital Anxiety and Depression scale (HADS). Data were related to clinical manifestation reflected by the Newcastle Mitochondrial Disease Adult Scale (NMDAS) score and heteroplasmy levels of the mutation in urine epithelial cells.ResultsPatients reported impaired quality of life. Sixty percent showed severe levels of fatigue, and 37 % showed clinical relevant mental health problems, which was significantly more than healthy norms. These patient reported health outcomes showed negligible relationship with levels of heteroplasmy (r = <.30) and weak (.30 < r < .50) to moderate (.50 < r < .70) relationship with clinical manifestation.ConclusionsPatient reported outcomes on quality of life, fatigue and mental health problems, are only partly reflected by clinical assessments. In order to support patients more effectively, integration of patient reported outcomes, alongside symptoms of their disease, in clinical practice is warranted.
Highlights
Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA
We focused on a group of patients with the m.3243A > G mutation reflecting one of the most common genetic causes for mitochondrial disorders, often referred to as acronym Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like episodes (MELAS) [10] (Pavlakis, Phillips, DiMauro, De Vivo, & Rowland, 1984) and/or maternally inherited diabetes and deafness (MIDD)
As dependent variables we focused on physical functioning, functional impairment, fatigue and mental health
Summary
Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored. A recent study that took patient reported outcomes on fatigue into account reported little relationship between these outcomes and genotype and clinical manifestation either [6] (Gorman et al 2015). Information about patients’ self reported quality of life and impact of the disease in their daily life is important to be able to focus care on patients’ most important complaints, as well as to further understand the relationship of biological and clinical parameters with these patient reported outcomes. Gorman et al [6] (2015) supported the importance of fatigue in a group of patients with a variety of mitochondrial disorders
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