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Fabry Cardiomyopathy

A lysosomal storage cardiomyopathy caused by alpha-galactosidase A deficiency in Fabry disease.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Fabry Cardiomyopathy?

Fabry disease is an X-linked inherited lysosomal storage disorder caused by deficiency of alpha-galactosidase A, leading to lysosomal accumulation of globotriaosylceramide (GB3). Cardiac involvement is common and includes left ventricular hypertrophy, arrhythmias, valvular disease and heart failure.

Fabry cardiomyopathy is often confused with hypertrophic cardiomyopathy; features that help distinguish it include a short PR interval on ECG, inferolateral late gadolinium enhancement on cardiac MRI, and low plasma alpha-galactosidase A activity.

Diagnosis is confirmed by enzyme assay, genetic testing (GLA gene mutation) and cardiac MRI. Management includes enzyme replacement therapy (agalsidase alfa or beta), chaperone therapy (migalastat), standard heart failure management and multidisciplinary follow-up.

Symptoms

Exertional dyspnea
Palpitations and arrhythmias
Chest pain
Burning pain in hands and feet (acroparesthesia)
Hypohidrosis (reduced sweating)
Signs of renal dysfunction
Stroke at a young age

Risk Factors

Family history of Fabry disease
Male sex (X-linked)
Female carriers may also be affected
Onset in childhood
Confirmed genetic mutation
Classical cardiovascular risk factors
Renal and nervous system involvement

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained left ventricular hypertrophy
  • Family history of Fabry disease
  • Early-onset acroparesthesia
  • Stroke at a young age
  • Renal dysfunction with cardiac hypertrophy
  • Unexplained arrhythmia

Treatment Methods

01
Enzyme replacement therapy (agalsidase alfa/beta)
02
Oral chaperone therapy (migalastat)
03
Standard heart failure management
04
Arrhythmia therapy (ICD, antiarrhythmics)
05
Renoprotective treatment
06
Neuropathic pain management
07
Multidisciplinary follow-up (nephrology, genetics, cardiology)

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.