A case of Fabry disease (alpha-galactosidase A deficiency).
Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease. Although less than 500 cases of this disease have been reported in the literature, such events remind the clinician that the environment of rural practice is not immune to unusual and diverse medical problems.
Thornbury
W C
WC
Westlake Primary Care Center, Columbia, KY.
Aaron
P
P
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male