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Fabry Disease

Fabry Disease is a topic covered in the 5-Minute Clinical Consult.

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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, ceramide trihexosidosis, α-galactosidase A deficiency, or Anderson-Fabry disease
  • Multisystem, progressive disease that can have cutaneous, cardiovascular, cerebrovascular, renal, neurologic, and psychiatric manifestations

Epidemiology

  • Second most prevalent lysosomal storage disease (after Gaucher disease)
  • Panethnic
  • Manifests primarily in men (given that it is X-linked), but female heterozygotes are also affected
  • Reported incidence from 1:3,100 to 1:117,000 live male births, although the prevalence is likely underestimated given delays in diagnosis (1). Female prevalence is unclear due to perceived underdiagnosis.
  • More likely to be undiagnosed in at risk populations (e.g., young patients with stroke, hypertrophic cardiomyopathy of unknown cause)

Pediatric Considerations
Can present in male children around 6 to 8 years and females around 9 years (1). Children often present initially with neurologic or gastrointestinal symptoms (2).

Etiology and Pathophysiology

  • X-linked inborn error of the glycosphingolipid metabolic pathway
  • Deficiency of α-galactosidase A results in the accumulation of globotriaosylceramide (Gb3) in lysosomes in multiple cell types throughout the body.
  • Accumulation of Gb3 is particularly prominent in the vascular endothelium and smooth muscle cells, leading to vascular occlusion, ischemia, and infarct.

Genetics
  • Gene defect located on the long arm of the X chromosome, Xq22
  • X-linked inheritance pattern
  • Hemizygous men are most commonly affected. Up to 70% of affected females have mild to pronounced features.
  • Genetic testing is available. If family history suggests a diagnosis of Fabry disease, genetic testing and counseling should be offered to all family members, regardless of gender.

General Prevention

Fabry disease is a hereditary disorder. Early identification and proper management can prevent or delay complications.

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Citation

Stephens, Mark B., et al., editors. "Fabry Disease." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816905/all/Fabry_Disease.
Fabry Disease. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816905/all/Fabry_Disease. Accessed April 18, 2019.
Fabry Disease. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816905/all/Fabry_Disease
Fabry Disease [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 18]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816905/all/Fabry_Disease.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Fabry Disease ID - 816905 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816905/all/Fabry_Disease PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -