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Aseptic meningitis and Fabry disease.

Camille Montardi1, Augustin Gaudemer2,3, Mathieu Zuber4,5

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Fabry disease, a genetic disorder, can cause aseptic meningitis in patients. This study found 3.7% of Fabry patients experienced meningitis, highlighting it as a potential rare complication.

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Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Fabry disease results from alpha-galactosidase A deficiency, causing glycosphingolipid accumulation and multisystemic effects.
  • Neurological complications of Fabry disease commonly include pain, autonomic dysfunction, and strokes, but rarer manifestations like aseptic meningitis exist.

Purpose of the Study:

  • To determine the prevalence of aseptic meningitis in patients with Fabry disease.
  • To characterize the clinical presentation of aseptic meningitis in this patient population.

Main Methods:

  • Retrospective review of Fabry disease patients diagnosed with meningitis at a tertiary referral center (1995-2023).
  • Systematic literature review to identify and analyze additional published cases of aseptic meningitis in Fabry disease patients.

Main Results:

  • Aseptic meningitis occurred in 3.7% (4/107) of the studied Fabry disease cohort.
  • A systematic review identified 25 additional cases, totaling 29 patients. Median age was 29, with lymphocytic pleocytosis in CSF.
  • In most cases (82.8%), Fabry disease diagnosis was made after meningitis onset; 17.2% had large artery stenosis, and 57.1% experienced a stroke concurrently with meningitis.

Conclusions:

  • Fabry disease should be considered in the differential diagnosis of aseptic meningitis.
  • The underlying mechanisms of meningeal inflammation in Fabry disease are not fully understood but may involve pro-inflammatory pathway dysregulation.