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Published on: June 30, 2023
Primary mitochondrial arteriopathy
J Finsterer1, S Zarrouk Mahjoub
1Danube University Krems, Krems, Postfach 20, 1180 Vienna, Austria. fipaps@yahoo.de
Aim:
Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but meanwhile there are strong indications that large and small arteries are primarily or secondarily affected in MIDs.
Data Synthesis:
When reviewing the literature for appropriate studies it turned out that vascular involvement in MIDs includes primary or secondary micro- or macroangiopathy of the cerebral, cervical, and retinal arteries, the aorta, the iliac arteries, the brachial arteries, or the muscular arteries. Arteriopathy in MIDs manifests as atherosclerosis, stenosis, occlusion, dissection, ectasia, aneurysm formation, or arteriovenous malformation. Direct evidence for primary cerebral microangiopathy comes from histological studies and indirect evidence from imaging and perfusion studies of the brain. Microangiopathy of the retina is highly prevalent in Leber's hereditary optic neuropathy. Macroangiopathy of the carotid arteries may be complicated by stroke. Arteriopathy of the aorta may result in ectasia, aneurysm formation, or even rupture. Further evidence for arteriopathy in MIDs comes from the frequent association of migraine with MIDs and the occurrence of premature atherosclerosis in MID patients without classical risk factors.
Conclusions:
Mitochondrial arteriopathy most frequently concerns the cerebral arteries and may result from the underlying metabolic defect or secondary from associated vascular risk factors. Vascular involvement in MIDs has a strong impact on the prognosis and outcome of these patients.
Insights
Arteries are significantly impacted in mitochondrial disorders (MIDs), affecting both large and small vessels. This vascular involvement, or arteriopathy, influences patient prognosis and outcomes.
Area of Science:
- Vascular Biology
- Mitochondrial Medicine
- Neurology
Background:
- Mitochondrial disorders (MIDs) are a group of debilitating diseases affecting cellular energy production.
- The role of arteries in MIDs has been a subject of ongoing research and debate.
- Growing evidence suggests significant vascular involvement in MIDs.
Purpose of the Study:
- To review and synthesize existing literature on arterial involvement in mitochondrial disorders.
- To elucidate the types and manifestations of arteriopathy in MIDs.
- To understand the impact of vascular complications on patient outcomes.
Main Methods:
- Comprehensive literature review of studies investigating vascular involvement in MIDs.
- Analysis of reported cases of arteriopathy in various arterial beds.
- Correlation of vascular findings with clinical manifestations and risk factors.
Main Results:
- Vascular involvement in MIDs encompasses micro- and macroangiopathy affecting cerebral, retinal, aortic, and other arteries.
- Manifestations include atherosclerosis, stenosis, occlusion, dissection, ectasia, aneurysm, and arteriovenous malformations.
- Evidence includes histological, imaging, and perfusion studies, with high prevalence in Leber's hereditary optic neuropathy and associations with migraine and premature atherosclerosis.
Conclusions:
- Mitochondrial arteriopathy commonly affects cerebral arteries and can stem from metabolic defects or secondary risk factors.
- Vascular complications in MIDs significantly impact patient prognosis and overall outcome.
- Early recognition and management of arteriopathy are crucial for improving patient care in MIDs.
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