Epidemiology

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

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Physiology

• Alpha-galactosidase A Deficiency

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Diagnosis

• xxx

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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
  • Asthma (see Asthma, [[Asthma]])
  • Chronic Obstructive Pulmonary Disease (COPD) (see Chronic Obstructive Pulmonary Disease, [[Chronic Obstructive Pulmonary Disease]])

Renal Manifestations

• xxxx

Other Manifestations

• xxx
• xxx
• xxx

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Treatment

• xxx

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References

• 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]