What are the symptoms in female heterozygotes with Fabry disease?
The clinical manifestations in heterozygous females from Type 1 Classically affected families range from as severely affected as males to asymptomatic throughout life.
The variation in manifestations is primarily a result of random X-chromosomal inactivation. Kidney manifestations in heterozygotes can include isosthenuria, proteinuria, and the presence of leukocytes, erythrocytes, and hyaline and granular casts in the urinary sediment.
Approximately 15% of heterozygotes will progress to ESKD, according to US and European registry data. Cardiac involvement, transient ischemic attacks, and strokes may occur in older heterozygotes.
Heterozygotes from Type 2 Later-Onset families typically are asymptomatic for decades, but can develop kidney, cardiac, or cerebrovascular disease later in life.
