Fabry disease: A lifelong, progressive condition1-3

The long-term challenges of life with Fabry1-3

Fabry disease is a rare genetic disease that causes significant clinical manifestations in multiple organ systems over time.

Renal failure
Fabry can affect all cell types within the kidneys, even with minimal proteinuria and normal eGFR.4
  • By age 35, ~50% of patients have proteinuria, typically the early sign of renal decline5
  • Decreasing eGFR progresses to kidney failure over time1,2,6
    • By age 30 or 40, clinical intervention is often necessary1,2,6
    • 40 years old is the mean age of kidney failure in Fabry2,7
Males vs females with Fabry
  • Younger males at 41.8 years of age developed chronic kidney disease vs females at 51.9 years of age8
  • 6x more males progressed to end-stage renal disease than females (49 vs 8, respectively)8
  • Males and females reached end-stage renal disease at approximately the same age: 39.5 for males, 42.4 for females8

The hidden impact on females

Myth: Female patients are asymptomatic carriers of Fabry.9
Studies have disproved this myth, showing that heterozygous females can experience Fabry symptoms as severely as males.9
  • Most heterozygous females have clinically significant Fabry disease symptoms and clinical manifestations10

In a study of 44 female patients with Fabry:

  • Patients were 2x more likely to experience hypertension than the general population of US women (43% vs 20%)10

eGFR, estimated glomerular filtration rate.

Here are a few patients you might see in your practice:

Treatment is critical to slowing disease progression
and the effects it can have over time.1,3

How to measure successful Fabry treatment:

Sustained efficacy

Watching for new or more frequent symptoms, such as Fabry crises, can help identify disease progression or loss of treatment effect1,11,12

Treatment experience

Premedications and infusion durations can add up to a lengthy overall time commitment12

Immune response

Monitoring and managing ADAs over time is an important part of monitoring treatment response12


Ongoing IRRs and adverse events can affect patient satisfaction and compliance12

Starting and staying on treatment is crucial,1,2 so encourage your patients to notify you of any new or ongoing issues.

PEG, polyethylene glycol.