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Quantifying Brain Iron in Hereditary Hemochromatosis Using R2* and Susceptibility Mapping.

S K Sethi1,2, S Sharma3, S Gharabaghi2

  • 1From the Department of Radiology (S.K.S., E.M.H.), Wayne State University, Detroit, Michigan sethisea@gmail.com.

AJNR. American Journal of Neuroradiology
|July 7, 2022
PubMed
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This summary is machine-generated.

Hereditary hemochromatosis patients show elevated brain iron levels in deep gray matter regions. Magnetic resonance imaging techniques like quantitative susceptibility mapping and R2* mapping can detect these iron changes, aiding in understanding neurodegeneration.

Area of Science:

  • Neuroimaging
  • Neurodegeneration
  • Medical Physics

Background:

  • Brain iron dyshomeostasis is linked to neurodegeneration.
  • Hereditary hemochromatosis causes systemic iron overload.
  • Evidence of increased brain iron in hereditary hemochromatosis is limited.

Purpose of the Study:

  • To noninvasively quantify brain iron in hereditary hemochromatosis patients.
  • To compare brain iron levels between patients and healthy controls.
  • To assess the utility of quantitative susceptibility mapping (QSM) and R2* mapping for brain iron quantification.

Main Methods:

  • Fifty-two hereditary hemochromatosis patients and 47 controls underwent 3T MRI.
  • Multiecho gradient-echo sequences were used to acquire QSM and R2* data.

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  • Deep gray matter regions were segmented to calculate mean susceptibility and R2* relaxation rates.

    • Main Results:

    • Elevated iron levels were observed in the caudate nucleus, putamen, pulvinar thalamus, red nucleus, and dentate nucleus of patients.
    • The substantia nigra showed increased susceptibility, and the thalamus showed an increased R2* relaxation rate compared to controls.
    • Both QSM and R2* methods indicated abnormal brain iron levels in patients.

    Conclusions:

    • Quantitative susceptibility mapping and R2* mapping reveal abnormal brain iron levels in hereditary hemochromatosis.
    • These MR imaging techniques can be acquired simultaneously and are complementary for deep gray matter iron quantification.
    • Findings support the role of brain iron in hereditary hemochromatosis-associated neurodegeneration.