Reverse Fabry in Females Reveal Hidden Path to Relief
If you or someone you love is struggling with the often-overlooked symptoms of Fabry disease, it's time to explore innovative treatment options that could transform your quality of life—browse options today and discover pathways to relief.
Understanding Reverse Fabry in Females
Fabry disease, a rare genetic disorder, often presents differently in females, leading to underdiagnosis and undertreatment. The disease is caused by mutations in the GLA gene, which leads to a deficiency of the enzyme alpha-galactosidase A. This deficiency results in the accumulation of globotriaosylceramide (Gb3) in the body's cells, causing a range of symptoms from pain and fatigue to more severe complications like kidney failure and heart disease1.
In females, symptoms can be subtler and more variable due to the presence of one normal X chromosome, which can partially compensate for the defective gene. This variability often leads to a delay in diagnosis and treatment, as symptoms might be attributed to other causes2. However, recent advancements in genetic testing and a deeper understanding of the disease are paving the way for more effective management strategies.