Time is of the essence for diagnosing and managing Fabry disease.
Fabry disease is a genetic, X-linked disorder that affects men, women, and children. It is classified into 2 main phenotypes, classic and nonclassic, both of which can lead to organ failure and serious complications in adulthood and reduction in life expectancy.4,5
Fabry disease is caused by pathogenic mutations in the galactosidase alpha (GLA) gene that lead to complete or partial deficiency of α-galactosidase (α-GAL A). This results in progressive accumulation of glycolipids—globotriaosylceramide (GL-3) and globotriaosylsphingosine (Lyso-GL-3)—in lysosomes throughout the body.6,7
Accumulation of GL-3 and Lyso-GL-3 starts in utero, causing cellular damage that can progress before overt clinical signs, often leading to organ damage and premature death.4,9Learn more about Fabry disease »
It is important to monitor pediatric and adult patients in order to identify early symptoms and manage previously identified symptoms—before they progress to life-threatening conditions.5
Along with GL-3, accumulation of Lyso-GL-3 is associated with disease progression and severity. The role of Lyso-GL-3 as a key factor in disease pathology makes it an important biomarker for monitoring disease progression and can help inform clinical decision-making in Fabry disease.4,8,10
It is important to identify symptoms that are just starting to emerge.
Previously identified symptoms should be monitored to see if they have gotten worse.
Female patients presenting with renal, cardiac, CNS, or GI symptoms, or pain should be considered for ERT16
Classic Fabry mutation (symptomatic or asymptomatic):
Nonclassic Fabry mutation or missense GLA VUS14*:
VUS=variant of unknown significance.
*Nonclassic or missense GLA VUS have the same recommendation for males and females.
Fabrazyme (agalsidase beta) reduces globotriaosylceramide (GL-3) deposition in capillary endothelium of the kidney and certain other cell types. The reduction of GL-3 inclusions suggests that Fabrazyme may ameliorate disease expression; however, the relationship of GL-3 inclusion reduction to specific clinical manifestations of Fabry disease has not been established.