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The heart in Fabry's disease.

Mary N Sheppard1

  • 1Royal Brompton Hospital, Cry Centre for Cardiac Pathology, Sydney St, London SW36NP, United Kingdom. m.sheppard@rbht.nhs.uk

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|November 19, 2009
PubMed
Summary

Fabry disease (FD) is a genetic disorder caused by alpha-Gal A deficiency, leading to lipid accumulation and severe organ damage. Enzyme replacement therapy (ERT) shows promise for managing cardiac issues, but early intervention is key.

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Area of Science:

  • Genetics
  • Biochemistry
  • Cardiology

Background:

  • Fabry disease (FD) is a rare X-linked recessive disorder caused by alpha-galactosidase A (alpha-Gal A) deficiency due to GLA gene mutations.
  • This deficiency results in the accumulation of globotriaosylceramide (Gb3) and other lipids, primarily in vascular endothelium, leading to multi-organ damage.
  • Clinical manifestations include renal, cardiovascular, and cerebrovascular complications, with males typically developing severe disease in childhood or adolescence.

Purpose of the Study:

  • To review the cardiac damage associated with Fabry disease.
  • To evaluate the efficacy of enzyme replacement therapy (ERT) in managing cardiac manifestations of FD.
  • To highlight the importance of early diagnosis and treatment for preventing disease progression.

Main Methods:

  • Review of existing literature on Fabry disease, focusing on cardiac involvement and ERT.
  • Analysis of reported outcomes of ERT in patients with FD, particularly concerning cardiac function.
  • Discussion of the challenges in diagnosing and managing FD, especially in heterozygous females.

Main Results:

  • FD leads to progressive glycosphingolipid accumulation, causing life-threatening cardiac, renal, and cerebrovascular sequelae.
  • While ERT has improved symptoms and quality of life, its efficacy in established cardiac damage is debated, with some patients showing persistent cardiac issues.
  • Early signs of FD can appear in childhood, emphasizing the need for timely diagnosis and intervention.

Conclusions:

  • Cardiac damage is a significant complication of Fabry disease, impacting patient mortality and morbidity.
  • ERT offers potential benefits for FD management, but its effectiveness may be limited in cases with pre-existing cardiac damage.
  • Focusing on early diagnosis and initiating ERT to prevent or slow the onset of cardiac manifestations is crucial for improving long-term outcomes in FD patients.