Pulmonary, ear and less commonly appreciated manifestations

Abstract

The widespread organ involvement associated with the deficiency of alpha galactosidase in Fabry disease (FD) [OMIM 301500] is well recognized in the renal, cardiac, neurological and cutaneous manifestations of the disorder. However, beyond these major sites of disease burden the accumulation of glycosphingolipids has been found in other areas. Apart from sporadic case reports, descriptions of primary pulmonary, visual, auditory and other less prominent systems involvement have not been prominent in the Fabry literature until recent times. The emergence of novel therapies, such as enzyme replacement, has led to the need for greater information about the natural history and extent of this disease. The impact of this combined morbidity, often beginning in childhood, and in particular the effect on quality of life is beginning to be recognized. In a time of improving techniques for clinical surveillance, monitoring of such systems will allow for a better understanding of timing of treatment as well as offering diagnostic leads when the more common features may yet have occurred. The purpose of this chapter is to provide a review of FD and these organ systems, a summary of the clinical, epidemio-logical data and results of therapy which are currently available to those who look after Fabry patients. © 2010 Springer Science+Business Media B.V.