Blanca, living with Fabry disease.

FEMALES WITH FABRY DISEASE
are not JUST “CARRIERS”

  • Fabry disease is progressive and can impact your organs
  • Affected females may experience a wide range of symptoms, and some can be life altering
  • Guidelines recommend ERT like Fabrazyme at early signs of disease in females

LEARN MORE ABOUT FABRY DISEASE IN FEMALES.

Females with Fabry Patient Brochure (English)

Why do females experience a range of symptoms with Fabry disease?

This happens because of X-chromosome inactivation (described below). Fabry is an X-linked genetic disease, which means it’s caused by a change in a gene (called the GLA gene) located on the X chromosome. This altered gene can be passed down by either parent.

HOW FEMALES INHERIT AND PASS DOWN FABRY DISEASE

A person who inherits the altered Fabry gene is unable to produce enough of an enzyme called
alpha-galactosidase A (pronounced al-fa-ga-lak-toesi-daze a), or alpha-GAL. This enzyme is important in the healthy functioning of organs.

Females have two X chromosomes in every cell. In a random process before birth, one of the X chromosomes becomes inactivated (turned off). For females with Fabry disease, this
X-inactivation results in a mix of cells with a working/active GLA gene and cells with a non-working/inactive GLA gene.

It is this mix of cells with a working copy of the GLA gene and cells with a non-working or inactive copy of the GLA gene (also called “mosaicism”) that causes the range of symptoms in females with Fabry.

In females with Fabry, certain organs may have more cells with a working/active copy of the GLA gene than others. This will allow some cells in the body to produce normal
alpha-GAL, which is why affected females may have more variable symptoms than affected males.

BECAUSE FEMALES CAN DEVELOP LIFE-THREATENING SYMPTOMS, ALL FEMALES WITH FABRY DISEASE SHOULD BE SEEN REGULARLY BY THEIR DOCTORS.

FEMALES WITH FABRY DISEASE can suffer from life-altering symptoms

FABRY DISEASE MAY IMPACT ORGANS IN FEMALES

Females with Fabry have higher occurrence of serious complications than females in the general population:

End-stage
kidney disease

11x Higher

Stroke or
ministroke

Brain vessel
damage

7x Higher

Thickening of
left heart chamber

In the Fabry Registry, ~70% of females reported having
signs and symptoms.*

45% have abdominal pain

43% have nerve pain

39% have diarrhea

39% have protein in their urine

*Data as of January 2007, including 1077 females enrolled in the Fabry Registry, an ongoing international observational program for patients with Fabry disease.

Gastrointestinal (GI) symptoms and neuropathic (nerve) pain could be red flags suggesting that dangerous underlying organ damage is occurring.

ROUTINE MONITORING IS vital TO
KEEP YOUR ORGAN HEALTH IN CHECK

Females with Fabry disease are at risk for potentially life-threatening problems, so it’s important to have regular checkups and map disease progression over time, even if you don’t feel sick. This could help you notice if symptoms are progressing and affecting your internal organs such as your kidneys or heart.

Organ damage can progress “silently” even if you don’t feel sick. Medical assessments are needed to monitor these symptoms, especially since they can affect the kidneys, heart, and brain.

Some of the ways Fabry disease can affect you:

Impaired kidney function

  • Kidney failure
  • Protein in urine

Strokes and ministrokes

Heart problems

  • Chest pain
  • Heart disease
  • Enlarged heart
  • Irregular heartbeat

Stomach disorders

  • Diarrhea
  • Constipation
  • Stomach cramping

Skin and nerve conditions

  • Reddish or purple spots on skin
  • Nerve pain in hands or feet
  • Reduced ability to sweat
  • Sensitivity to hot and cold temperatures

Additional complications

  • Hearing loss or ringing in
    the ears
  • Whorling pattern in the eyes (corneal whorling)
  • Headaches, lightheadedness, vertigo
  • Breathing problems

What are 5 key questions about Fabry you should discuss with your doctor? Download here.

MAKE YOUR HEALTH A PRIORITY BY SCHEDULING ROUTINE ASSESSMENTS WITH YOUR DOCTOR TO MONITOR ORGAN FUNCTION.

Explore Pivotal Efficacy and Safety Data
for Fabrazyme.

SEE HOW WE CAN HELP.

Common side effects reported in 20% or more of Fabrazyme treated patients in clinical studies compared to placebo were upper respiratory tract infection, chills, fever, headache, cough, burning and/or tingling sensation, fatigue, swelling in the legs, dizziness and rash.

THE USE OF FABRAZYME® IN females

In a long-term observational study:

Pre- vs post-treatment analysis of long-term Fabrazyme outcomes in a large group of
female patients with Fabry disease

WHO WAS INCLUDED IN THIS STUDY?

Females enrolled in the Fabry Registry who started treatment with
agalsidase beta as their first ERT at the age of 18 years or older

(Note: Females with later onset Fabry disease or kidney failure were
not included)

Self-controlled pre- and post-treatment comparison

Kidney function (eGFR) was assessed before and after treatment with Fabrazyme

Baseline characteristics:

Median patient age at…

  • Start of symptoms: ~15 years
  • Diagnosis: ~35 years
  • First Fabrazyme infusion: ~46 years
Study limitations:
  • Limited number of patients
  • Cardiovascular and/or renal risk factors, comorbid conditions, and co-medication use
    (other than ACEi/ARBs) were not analyzed
  • Female patients enrolled in the Fabry Registry and initiated on treatment with
    Fabrazyme may have more advanced Fabry disease

ACEi=angiotensin-converting-enzyme inhibitor; ARBs=angiotensin-receptor blockers.

*At least 2 measurements during the 5 years before the start of treatment and at least 2 measurements during the 5 years after the start of treatment (measurements needed to be at least 2 years apart).

STUDY RESULTS
In a long-term observational study of 86 females, Fabrazyme maintained a normal level of kidney function decline

The rate of decline in kidney function (measured by eGFR) was similar and within normal range before and after females with Fabry disease started treatment with Fabrazyme.

  • Before treatment
    Lungs

    Estimated eGFR decline:
    -0.83 mL/min/1.73 m2 each year

  • After treatment
    Lungs

    Estimated eGFR decline:
    -0.95 mL/min/1.73 m2 each year

  • The rate of decline in kidney function was the same before and after starting treatment with Fabrazyme both in females who had signs of kidney disease and in those who did not
  • Females with signs of kidney disease had a larger decline in eGFR both before and after treatment compared with those who did not have signs of kidney disease

This is calculated as the average change based on the combined data of all the females who were included in the study. Sources: Wanner C et al. ESC Heart Fail. 2020;7(3):825-834. Wanner C et al. Future Cardiol. 2022;18(10):1-9.

You WILL THANKYou FOR PUTTING YOUR ORGAN HEALTH FIRST

Treatment guidelines state that an enzyme replacement therapy (ERT) like Fabrazyme should be considered for females with early signs and symptoms of disease progression.

Guidelines are a tool for doctors to consider when making treatment recommendations. If you have questions about the guidelines for Fabry disease, talk to your doctor.

OVER 800 FEMALES

IN THE US ARE ON FABRAZYME TREATMENT*

Several women smiling

*Data on file.

FABRY IS PROGRESSIVE, AND ERT SHOULD BE CONSIDERED AT EARLY SIGNS OF DISEASE IN FEMALES.

AS A FEMALE WITH FABRY DISEASE,
WHAT WILL You THANK You FOR?

Blanca is living with Fabry disease, just like you, and she chose to be her own advocate. She chose what works for her and her daughter, also living with the disease.

Read Blanca’s thank you letter to herself in the brochure linked below. Consider what you will thank you for when you put your health first.