Fabry's disease in a heterozygous woman.

Abstract

Fabry's disease is a rare, X-linked disorder of glycolipid metabolism that is usually recognized in men in the third and fourth decades of life. A heterozygous state in women has been documented, but reports about women who are affected are confined to isolated case reports and to rare small series. We report a case of a 42-year-old woman with persistent proteinuria who was found to have Fabry's disease. The characteristic lesion was readily seen using routine high-resolution light microscopy (HRLM) tissue sections without the need of multiple extra tissue sections and special stains. We discuss the correlation of clinical findings, fluorescent microscopy, HRLM, electron microscopy, and biochemical enzymatic studies in establishing the diagnosis.