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Issues Affecting the Blood / Bone Marrow

Hematological issues are described in mitochondrial disease and include issues with bruising and bleeding, thrombotic stroke, anemia, and pancytopenia. The actual mechanisms are not well understood.

Bruising

A significant amount of ATP is required for each phase of platelet function, including shape change, aggregation and release reaction. Impairment of ATP production can impact platelet function (Kotzailias, 2004). A decrease in platelet function was noted during and following exercise but was not thought to be a primary factor in the etiology of stroke (Kotzailias, 2004).

For patients with easy bruising, vitamin E supplementation may exacerbate the symptom.

Stroke

In MELAS syndrome there may be a significant load of abnormal mitochondria in the endothelial cells and smooth muscles cells of pial arterioles and small intracerebral arteries (Sakuta, 1989; Koga, 2006), impacting blood vessel contraction and dilatation and impairing the microcirculation of the brain leading to ischemia and stroke (Koga, 2006).

Stroke-like episodes manifest the same symptoms as traditional stroke but are not due to problems in the distribution of major cerebral blood vessels (see ACUTE NEUROLOGICAL DETERIORATION).

Anemia/Pancytopenia

Mitochondria are integral for the production of heme (Lane, 2006). Macrocytic and sideroblastic anemia are described (Bader-Meunier, 1999), the latter described in Pearson syndrome in which mitochondrial DNA rearrangements impact bone marrow cell proliferation, leading to pancytopenia (Wallace, 2005).

Recommendations

  1. If bruising is noted without an associated bleeding problem, consider discontinuation of any vitamin E supplementation.
  2. If persistent bruising is noted and/or an associated bleeding diathesis, consider referral to a hematologist.

References

Bader-Meunier B, Mielot F, Breton-Gorius J, et al. Hematologic involvement in mitochondrial cytopathies in childhood: A retrospective study of bone marrow smears. Pediatr Res 46(2):158-62.

Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by L-arginine supplementation. Neurology 2006;66:1766-9.

Kotzailias N, Finsterer J, Zellner M, et al. Platelet function in mitochondriopathy with stroke and stroke-like episodes. Thromb Haemost 2004;91:544-52.

Lane N. Powerhouse of disease. Nature 2006;440:600-2.

Sakuta R, Nonaka I. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989;25(6):594-601.

Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn of evolutionary medicine. Annual Rev Genet 2005;39:359-407.

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