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Fabry Disease

Willard Chung, MD Reviewed 06/2022
 


BASICS

DESCRIPTION

  • An X-linked glycolipid storage disease caused by mutation in GLA gene causing a deficiency of the lysosomal enzyme α-galactosidase A

  • Also known as angiokeratoma corporis diffusum, cer...

DIAGNOSIS

HISTORY

  • Children <5 years typically present with painful burning sensation in extremities (acroparesthesias) or gastrointestinal dysfunction (abdominal pain, nausea/vomiting, bloating, alt...

TREATMENT

MEDICATION

  • First-line treatment consists of enzyme replacement therapy (ERT), with both agalsidase beta (Fabrazyme, 1.0 mg/kg, 15 mg/hr) and agalsidase alpha (Replagal, 0.2 mg/kg over 40 minu...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Management of Fabry disease is primarily outpatient. Complications may require inpatient treatment.

  • At least annual assessment of renal function,...

REFERENCES

1
Schiffmann  R, Ries  M. Fabry disease: a disorder of childhood onset. Pediatr Neurol.  2016;64:10–20. [View Abstract on OvidMedline]
2
...

ADDITIONAL READING

CODES

ICD10

  • E75.21 Fabry (-Anderson) disease

  • L74.4 Anhidrosis

SNOMED

  • 16652001 Fabry’s disease (disorder)

  • 55827005 left ventricular hypertrophy (disorder)

  • 302226006 peripheral nerve disease (disorder)

  • 4500400...

CLINICAL PEARLS

  • Consider Fabry disease in young patients presenting with stroke, hypertrophic cardiomyopathy of unknown cause, CKD, heart disease, or unexplained pain.

  • Fabry disease is a complex multis...

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