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Cerebral hemorrhage in Fabry's disease

Katsuya Nakamura1, Yoshiki Sekijima, Kimitoshi Nakamura

  • 1Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

Journal of Human Genetics
|March 20, 2010
PubMed

Insights

Cerebral hemorrhage is a potential complication of Fabry disease, particularly in older males. This condition, caused by alpha-galactosidase A deficiency, may present with both ischemic and hemorrhagic stroke.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • Ischemic stroke is a known complication, but hemorrhagic stroke is considered rare.

Observation:

  • This study reports on three hemizygous male patients with Fabry disease who experienced cerebral hemorrhage.
  • One patient had classic Fabry disease (p.Ala37Val mutation), while two had the cerebrovascular variant (p.Glu66Gln mutation).

Findings:

  • Cerebral hemorrhage can occur in Fabry disease, challenging the notion of its rarity.
  • Contributing factors include small artery degeneration from glycosphingolipid deposition, aging, hypertension, and anticoagulant/antiplatelet use.

Implications:

  • Fabry disease should be considered in the differential diagnosis of cerebral hemorrhage, especially in elderly male patients.
  • This highlights the importance of recognizing both ischemic and hemorrhagic stroke as potential manifestations of Fabry disease.

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