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Enzyme Replacement Therapy in Fabry Disease

Agalsidase alfa and beta replace the deficient alpha-galactosidase enzyme 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.

References (5)

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 Enzyme Replacement Therapy in Fabry Disease?

Fabry disease is an X-linked lysosomal storage disorder. Alpha-galactosidase A deficiency causes globotriaosylceramide (Gb3) to accumulate in multiple organs. Cardiac involvement includes left ventricular hypertrophy and arrhythmias.

Agalsidase alfa (0.2 mg/kg IV every 2 weeks) and agalsidase beta (1.0 mg/kg IV every 2 weeks) replace the deficient enzyme and reduce Gb3 accumulation.

Early initiation of ERT can delay cardiac, renal and neurologic complications. Fabry cardiomyopathy is an important mimic of hypertrophic cardiomyopathy.

Symptoms

Angiokeratoma
Acroparesthesia
Hypohidrosis
Cardiac hypertrophy
Proteinuria
Corneal verticillata
Stroke in young adults

Risk Factors

X-linked family history
Male sex (hemizygous)
LVH at a young age
Unexplained proteinuria
Cryptogenic stroke
Milder phenotype in female carriers
Characteristic skin findings

When to See a Doctor?

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

  • Suspected Fabry disease
  • Family history of Fabry
  • Unexplained LVH
  • Unexplained proteinuria
  • Acroparesthesia
  • Established Fabry follow-up

Treatment Methods

01
Agalsidase alfa or beta ERT
02
Oral migalastat for amenable mutations
03
Heart failure therapy
04
ACE inhibitor for proteinuria
05
Pain management
06
Multidisciplinary follow-up
07
Family screening

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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You can make an appointment with our specialists or contact us for your concerns.

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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.