Fact-sheet: Fabry disease


Updated on 08/25/2020 at 5:08 PM

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Definition

Progressive hereditary systemic lysosomal storage disease due to a deficiency or absence of alpha-galactosidase A activity, leading to lysosomal storage and accumulation of globotriaosylceramide.

This accumulation predominates in endothelial cells and smooth muscle cells.

At the cerebral level, involvement is characterized by small-vessel angiopathy.

Clinical features

  • Neurological symptoms (stroke)
  • Dermatological (angiokeratomas)
  • Acroparesthesias, pain.
  • Digestive disorders
  • Cardiovascular disorders
  • Renal disorders
  • Ophthalmological disorders: cataract

Laboratory findings

  • Proteinuria, chronic renal failure

CT

  • Calcifications of the globus pallidus, pulvinar, and supra- and infratentorial subcortical regions

MRI

  • T1: Hyperintense calcifications of the globus pallidus, pulvinar, and subcortical regions
  • T2: Confluent hyperintense areas within the white matter.
    Bilateral hypointense abnormalities of the basal ganglia.
  • T2-FLAIR: Visualization of ischemic lesions and lacunae
  • Diffusion: Hyperintensity of the basal ganglia
  • MRA: Dolichovessels (basilar trunk) and hemorrhagic lesions

Management

  • Multidisciplinary management