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Current status of cardiac manifestations in Fabry disease and their treatment

Dan Radulescu1, Elena Buzdugan1, Lauretiu Stoicescu1

  • 15 Internal Medicine Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Medicine and Pharmacy Reports
|September 16, 2021
PubMed

Insights

This paper reviews cardiac symptoms and diagnostic methods for Fabry disease myocardial involvement. It also outlines key treatments like enzyme replacement, substrate reduction, chaperone, and gene therapies for Fabry patients.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is a rare genetic disorder.
  • Cardiac involvement is a significant complication in Fabry disease.
  • Early diagnosis and management are crucial for Fabry patients.

Purpose of the Study:

  • To discuss cardiac symptoms in Fabry patients.
  • To outline diagnostic imaging and laboratory methods for myocardial involvement.
  • To present current and emerging treatment options for Fabry disease.

Main Methods:

  • Review of cardiac symptoms in Fabry disease.
  • Analysis of diagnostic imaging techniques (e.g., MRI, echocardiography).
  • Evaluation of laboratory markers for myocardial involvement.
  • Summary of therapeutic strategies including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), chaperone therapy, and gene therapy.

Main Results:

  • Cardiac symptoms in Fabry disease include hypertrophy, arrhythmias, and heart failure.
  • Diagnostic methods like cardiac MRI and echocardiography are key for detecting myocardial involvement.
  • Various laboratory markers aid in assessing disease severity.
  • Multiple treatment options are available, each with specific mechanisms and indications.

Conclusions:

  • Comprehensive understanding of cardiac manifestations is vital for Fabry patients.
  • Integrated diagnostic approaches improve detection of myocardial involvement.
  • A range of therapies, from established ERT to novel gene therapies, offer management strategies for Fabry disease.
  • Personalized treatment plans are essential for optimizing outcomes in Fabry patients.

Keywords:
Fabry diseasechaperone treatmentenzyme replacement therapygene treatmentsubstrate reduction therapy

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