Haematological abnormalities in mitochondrial disorders

Finsterer, Josef; Frank, Marlies

doi:10.11622/smedj.2015112

Cited by 20 publications

(18 citation statements)

References 34 publications

(73 reference statements)

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“…Hematological abnormalities have been associated with coronary heart disease (CHD), oxidative damage, and other health problems. [1][2][3][4] Epidemiological studies have reported associations between an increased WBC count and the risk of CHD and subclinical atherosclerosis. 5,6 A high RBC count may be a symptom of a disease or disorder, although it does not always indicate a health problem, and health or lifestyle factors can also cause a high RBC count.…”

Section: Introductionmentioning

confidence: 99%

Association between lifestyle and hematological parameters: A study of Chinese male steelworkers

Jean

Hsu

Hung

et al. 2019

Clinical Laboratory Analysis

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BackgroundIncreasing evidence suggests an association between lifestyle and white blood cell (WBC) count; however, no study has examined the effects of lifestyle associations on hematological parameters. The aim of this study was to examine the association between lifestyle factors and hematological parameters in a large population‐based sample of Chinese male steelworkers.MethodsThis study included 3189 male workers at a steel plant who responded to a cross‐sectional questionnaire on basic attributes, lifestyle, and sleep. All workers in the plant underwent periodic health checkups. Hematological parameters were also examined at the checkup.ResultsStepwise linear regression analyses showed that smoking, poor sleep, shift work, and obesity were all significant factors associated with WBC count. Obesity was independently associated with RBC count. Furthermore, smoking and obesity were associated with hemoglobin, and smoking, poor sleep, and obesity were independently associated with hematocrit. Moreover, smoking was the main factor associated with MCV and MCH. When the subjects were divided into quartiles according to WBC count, RBC count, hemoglobin, hematocrit, MCV, MCH, and increased WBC count were associated with smoking, poor sleep, shift work, and obesity. Increased hemoglobin was associated with smoking and obesity. Furthermore, an increased RBC count was associated with obesity, and increased hematocrit was associated with smoking, poor sleep, and obesity. Similarly, increased MCV and MCH were also associated with smoking.ConclusionThis study indicates that lifestyle factors may exert an important effect on hematological parameters (eg, WBC count, RBC count, hemoglobin, hematocrit, MCV, and MCH).

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Section: Introductionmentioning

confidence: 99%

Association between lifestyle and hematological parameters: A study of Chinese male steelworkers

Jean

Hsu

Hung

et al. 2019

Clinical Laboratory Analysis

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“…[4][5][6] In the presented case, the implications of the thyroid dysfunction, hyperhidrosis, hyperlipidaemia and autonomic and sensory involvement were neglected. In order to avoid misdiagnosis, clinical manifestations should not be ignored and a common cause of seemingly unrelated manifestations should not be excluded.…”

Section: Discussionmentioning

confidence: 96%

“…Since most MIDs develop into MIMODS during the disease course, it is usually just a matter of time before MIMODS becomes evident. 4,5 Nevertheless, it is important to note that ALS may also show morphological evidence of a mitochondrial defect. Hirano et al reported a 65-year-old ALS patient whose muscle biopsy showed 10% ragged- and alterations of the mitochondrial genome and transcriptome.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Finsterer¹,

Zarrouk‐Mahjoub²

2016

SQUMJ

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“…Among the sepcific MIDs, such hematological abnormalities occur in Pearson syndrome, KSS, Barth syndrome, mitochondrial myopathy, lactic acidosis and sideroblastic anemia, X-linked sideroblastic anemia, Leigh syndrome, Leber’s hereditary optic neuropathy, MELAS, and thiamine-responsive megaloblastic anemia 30. However, hematological abnormalities occur more frequently in non-specific MIDs than in specific MIDs 30. Whether eosinophilia, as found in one of the patients of the present study, should be attributed to MIDs remains speculative and requires further investigations.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

Finsterer

Zarrouk‐Mahjoub

2017

NDT

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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.

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Haematological abnormalities in mitochondrial disorders

Cited by 20 publications

References 34 publications

Association between lifestyle and hematological parameters: A study of Chinese male steelworkers

Association between lifestyle and hematological parameters: A study of Chinese male steelworkers

Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

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