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 variants in the galactosidase-alpha (GLA) gene that lead to complete or partial deficiency in α-galactosidase (α-GAL A) enzyme activity.6 This results in progressive accumulation of glycolipids−globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-GL-3)—in lysosomes throughout the body.6,7
Lyso-GL-3, the deacylated form of GL-3 is structurally similar to GL-3. Lyso-GL-3 may correlate with disease severity and organ involvement.
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.
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.2,3,4Learn 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.9
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, GI symptoms, or pain should be considered for ERT.18
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 has not been studied in patients under the age of 2.
While Fabrazyme lowers GL-3 in the capillary endothelium of the kidney, heart, and skin, it has not been shown to affect specific signs and symptoms of Fabry disease.