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[A little bit about sphingolipidoses in cardiology: a clinical case of Fabry disease]

A A Vedernikov1, E M Mezhonov1,2, N E Shirokov3

  • 1Regional Clinical Hospital №1.

Terapevticheskii Arkhiv
|August 8, 2025
PubMed

Insights

This case study highlights a woman with late-onset Fabry disease presenting with heart failure. Early diagnosis through family screening and detailed medical history is crucial for managing this rare, multisystemic condition.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Fabry disease is a rare, X-linked genetic disorder.
  • It leads to progressive multisystemic lesions due to alpha-galactosidase A deficiency.
  • Late-onset forms often present with cardiovascular complications.

Purpose of the Study:

  • To present a clinical case of Fabry disease in a woman with predominant heart failure.
  • To emphasize the importance of detailed anamnesis and family screening in diagnosing rare diseases.
  • To illustrate the management of an orphan disease in a regional hospital setting.

Main Methods:

  • Detailed clinical case presentation.
  • Emphasis on instrumental studies of the cardiovascular system.
  • Analysis of the progressive course of the disease.

Main Results:

  • The patient exhibited multisystemic lesions and late-onset Fabry disease.
  • The predominant clinical picture was heart failure.
  • The disease followed a progressive course, impacting the cardiovascular system.

Conclusions:

  • This case underscores the significance of family screening and thorough patient history for identifying Fabry disease.
  • Effective management of Fabry disease requires a multidisciplinary approach.
  • Raising awareness among medical professionals is vital for improving diagnosis and care of patients with rare diseases.

Keywords:
Fabry diseaseLyso-Gb3clinical caseenzyme replacement therapyleft ventricular myocardial hypertrophylysosomal storage diseases-galactosidase

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