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.
Fabry can affect all cell types within the kidneys, even with minimal proteinuria and normal eGFR.4
Incidence- By age 35, ~50% of patients have proteinuria, typically the early sign of renal decline5
Impact- 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
- 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
RenaleGFR, estimated glomerular filtration rate.
Here are a few patients you might see in your practice:
(38 years old, classic Fabry)*
(38 years old, classic Fabry)*
- Has been on an ERT for the 5 years since his initial diagnosis
- His kidney and heart function tests are stable
- Experiencing nausea, vomiting, and some recurring IRRs
- Recent testing also revealed a positive ADA result
- Questioning treatment. Other members of his family with Fabry do not believe that treatment is worth it
| * | Not an actual patient. Patient symptoms vary; individual clinical evaluation should be performed to determine course of therapy. |
ADA, anti-drug antibody; ERT, enzyme replacement therapy; IRR, infusion-related reaction.
(53 years old, nonclassic Fabry)*
(53 years old, nonclassic Fabry)*
- Has never been on treatment for her Fabry disease
- Was recently diagnosed with Fabry after years of doctors’ visits and testing
- Concerned about side effects associated with starting a Fabry treatment
- Relying on her doctor to identify which treatment is right for her
- It’s important to Shelly that her Fabry treatment is safe to start and stay on
| * | Not an actual patient. Patient symptoms vary; individual clinical evaluation should be performed to determine course of therapy. |
(26 years old, classic Fabry)*
(26 years old, classic Fabry)*
- Has been on an ERT for the 2 years since his initial diagnosis
- Is experiencing frequent Fabry symptoms and Fabry crises
- Greg’s doctor has informed him that a recent test showed declining eGFR values
- Greg’s doctor recently asked if he was open to considering other treatment options
| * | Not an actual patient. Patient symptoms vary; individual clinical evaluation should be performed to determine course of therapy. |
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
Tolerability
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.