Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

Abstract

ObjectivesMitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS score to assess the diagnostic probability for an MID.MethodsThis is a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs. A total of 36 definite MID patients, 19 men and 17 women, aged 29–82 years were included in this study. The diagnosis was based on genetic testing (n=21), on biochemical investigations (n=17), or on both (n=2).ResultsThe number of organs most frequently affected was 4 ranging from 1 to 9. MIMODS was diagnosed in 97% of patients. The organs most frequently affected were the muscle (97%), central nervous system (CNS; 72%), endocrine glands (69%), heart (58%), intestines (55%), and peripheral nerves (50%). The most frequent CNS abnormalities were leukoencephalopathy, prolonged visually evoked potentials, and atrophy. The most frequent endocrine abnormalities included thyroid dysfunction, short stature, and diabetes. The most frequent cardiac abnormalities included arrhythmias, systolic dysfunction, and hypertrophic cardiomyopathy. The most frequent MIMODS patterns were encephalomyopathy, encephalo-myo-endocrinopathy, and encepalo-myo-endocrino-cardiopathy. The mean ± 2SD MIMODS score was 35.97±27.6 (range =11–71). An MIMODS score >10 was regarded as indicative of an MID.ConclusionAdult MIDs manifest as MIMODS in the vast majority of the cases. The organs most frequently affected in MIMODS are muscles, CNS, endocrine glands, and heart. An MIMODS score >10 suggests an MID.

Aortic root ectasia as a phenotypic feature of a mitochondrial disorder

“…Magnetic resonance imaging angiography was scheduled, but the patient received a DNR order and died during the further course before the investigation and work‐up for MID could have been carried out. Based upon the history, the clinical examination, the instrumental investigations, and the MIMODS score (n = 43) (see Appendix ), MIMODS was diagnosed.…”

Liability of sepsis is hardly determined by the COXI variant m.6459T>C

“…Though we agree that immune cells may be affected in patients with a mitochondrial disorder (MID), MIDs usually manifest as a multiorgan syndrome, affecting the brain, muscles, peripheral nerves, eyes, ears, endocrine organs, the myocardium, the gastrointestinal tract, the lungs, the kidneys, the blood cells, the cartilage, and the skin in addition to the immune cells . Thus, it is important to prospectively investigate carriers of mtDNA mutations for clinical or subclinical involvement of the other organs.…”

Re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

“…A shortcoming of the study is that clinical severity of mtDNA‐related mitochondrial disorders (MIDs) in group 1 was not correlated with the Newcastle Mitochondrial Disease Scale for adults or with the Mitochondrial Multiorgan Disorders Syndrome score . We should be informed if frequency and severity of obstetric complications correlated with either of these scores.…”