Fabry Disease


  • History: the original case described by Fabry in 1898 had “asthma” and died of lung disease at age 43


  • Alpha-galactosidase A Deficiency


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Clinical Manifestations

Pulmonary Manifestations

Obstructive Lung Disease (see Obstructive Lung Disease, [[Obstructive Lung Disease]])

  • Epidemiology
    • Smoking history does not appear to impact the extent of airways disease
    • Extent of airways disease appears to increase with age
    • The presence of obstruction may be associated with certain mutations
  • Physiology
    • Lysosomal storage of glycosphingolipids is believed to result in hyperplasia of the bronchiolar smooth muscle cells, causing small airways disease
    • Large airways may become involved with the ongoing disease process
    • Lung interstitium is not believed to be involved
    • The effect of enzyme replacement therapy on respiratory involvement is unknown
  • Clinical

Renal Manifestations

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Other Manifestations

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  • Fabry Disease: Perspectives from 5 Years of FOS. Chapter 27. Pulmonary involvement in Fabry disease. [MEDLINE]
  • Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med. 1997 Mar;155(3):1004-10 [MEDLINE]
  • Pulmonary involvement in Fabry disease: overview and perspectives. Eur J Intern Med. 2013 Dec;24(8):707-13. doi: 10.1016/j.ejim.2013.05.003. Epub 2013 May 30 [MEDLINE]