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Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report

Toshihiro Tsuruda1, Yoshimasa Higashi2, Toshihiro Gi3

  • 1Department of Internal Medicine, Circulatory and Body Fluid Regulation, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki 889-1692, Japan.

European Heart Journal. Case Reports
|November 3, 2021
PubMed

Insights

This case study highlights that elevated Interleukin-6 (IL-6) and Interleukin-18 (IL-18) in pericardial fluid and plasma may indicate Fabry disease (FD) cardiomyopathy severity.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease (FD) is an X-linked genetic disorder impacting glycosphingolipid metabolism.
  • It results from deficient alpha-galactosidase A activity, leading to cellular damage.

Observation:

  • A 51-year-old woman with diagnosed FD presented with pericardial effusion and globotriaosylsphingosine in the fluid.
  • Despite enzyme replacement therapy with agalsidase alfa, left ventricular hypertrophy worsened, with increased plasma globotriaosylsphingosine and IL-18.
  • Pericardial fluid showed markedly elevated IL-6 compared to plasma.

Findings:

  • Elevated IL-6 and IL-18 levels in both plasma and pericardial fluid were observed.
  • These inflammatory markers correlated with disease progression and cardiac involvement.

Implications:

  • Elevated IL-6 and IL-18 may serve as indicators for Fabry disease cardiomyopathy severity.
  • This finding could aid in monitoring disease progression and treatment efficacy in FD patients.
Abstract

Keywords:
Case reportCytokineFabry diseaseHypertrophyInflammation

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