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

Brain vessel
damage

Stroke or
ministroke

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

  • Protein in urine
  • Kidney failure

Stomach disorders

  • Diarrhea
  • Constipation
  • Stomach cramping

Strokes and ministrokes

Additional complications

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

Heart problems

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

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

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?

86 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:

A long-term observational study of 86 females suggests 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. An annual loss of ~1mL/min/1.73m2/year is normal and to be expected for all individuals after the age of 40, regardless of whether they have Fabry or not.

Before treatment

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

After treatment

Estimated eGFR decline: -0.95 mL/min/1.73m2 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 THANK YOU 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.

*Data on file as of December 2022.

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.

Find Blanca’s letter here and learn more about Fabry disease in females.

Download the Females with Fabry Patient Brochure (English)

Put your health first

Managing and monitoring Fabry disease is important for maintaining your health. It’s important to take charge of your disease.
 

Treatment you can trust

For patients 2 years and up with Fabry disease, regardless of genetic variant, gender or disease severity. 
 

IMPORTANT SAFETY INFORMATION

IMPORTANT SAFETY INFORMATION

WARNING: SEVERE ALLERGIC REACTIONS

Patients treated with enzyme replacement therapies have experienced allergic reactions, including severe or life-threatening reactions (known as anaphylaxis). Anaphylaxis has occurred during the early course and after repeated treatment with enzyme replacement therapy.

Your healthcare professional should initiate Fabrazyme in a healthcare setting with appropriate medical monitoring and support measures. If a severe allergic or anaphylactic reaction occurs, your healthcare professional will immediately stop the infusion and provide appropriate medical treatment. Seek immediate medical care should symptoms occur.

Fabrazyme can cause serious side effects, including:

Severe Allergic Reactions Including Anaphylaxis

Approximately 1% of patients who received Fabrazyme experienced a severe allergic or anaphylactic reaction during their infusion. Some of these reactions were life-threatening, and included:

  • Swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion.
  • Tell your healthcare professional if you experience any of these symptoms.
  • Your healthcare professional may give you medicines before you receive Fabrazyme to help manage these reactions.

In clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies can sometimes be produced by the body’s immune system during an allergic reaction. Your healthcare professional may test you for IgE antibodies if you experience a suspected allergic reaction to help assess the risks and benefits of continuing treatment.

Infusion-Associated Reactions

In clinical studies, 59% of patients experienced infusion-associated reactions (IARs) during Fabrazyme administration, some of which were severe. IARs are defined as those occurring on the same day as your infusion. IARs occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than those who did not have anti-Fabrazyme antibodies.

  • You may receive medicines to help prevent IARs. IARs have happened in some patients even after taking these medications before their infusions.
  • If an IAR occurs, tell your healthcare professional, who may slow the infusion rate, stop the infusion, and/or provide appropriate medical treatment as needed.
  • People with advanced Fabry disease may have heart problems, which could put them at a higher risk for severe complications from IARs. Tell the healthcare professional for your infusions if you have known heart problems.

Common Side Effects

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.

Please see full Prescribing Information, including Boxed WARNING

IMPORTANT SAFETY INFORMATION

Show more

IMPORTANT SAFETY INFORMATION

WARNING: SEVERE ALLERGIC REACTIONS

Patients treated with enzyme replacement therapies have experienced allergic reactions, including severe or life-threatening reactions (known as anaphylaxis). Anaphylaxis has occurred during the early course and after repeated treatment with enzyme replacement therapy.

Your healthcare professional should initiate Fabrazyme in a healthcare setting with appropriate medical monitoring and support measures. If a severe allergic or anaphylactic reaction occurs, your healthcare professional will immediately stop the infusion and provide appropriate medical treatment. Seek immediate medical care should symptoms occur.

Fabrazyme can cause serious side effects, including:

Severe Allergic Reactions Including Anaphylaxis

Approximately 1% of patients who received Fabrazyme experienced a severe allergic or anaphylactic reaction during their infusion. Some of these reactions were life-threatening, and included:

  • Swelling of the face, mouth and throat, narrowing of breathing airways, low blood pressure, hives, difficulty swallowing, rash, trouble breathing, flushing, chest discomfort, itching and nasal congestion.
  • Tell your healthcare professional if you experience any of these symptoms.
  • Your healthcare professional may give you medicines before you receive Fabrazyme to help manage these reactions.

In clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies can sometimes be produced by the body’s immune system during an allergic reaction. Your healthcare professional may test you for IgE antibodies if you experience a suspected allergic reaction to help assess the risks and benefits of continuing treatment.

Infusion-Associated Reactions

In clinical studies, 59% of patients experienced infusion-associated reactions (IARs) during Fabrazyme administration, some of which were severe. IARs are defined as those occurring on the same day as your infusion. IARs occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than those who did not have anti-Fabrazyme antibodies.

  • You may receive medicines to help prevent IARs. IARs have happened in some patients even after taking these medications before their infusions.
  • If an IAR occurs, tell your healthcare professional, who may slow the infusion rate, stop the infusion, and/or provide appropriate medical treatment as needed.
  • People with advanced Fabry disease may have heart problems, which could put them at a higher risk for severe complications from IARs. Tell the healthcare professional for your infusions if you have known heart problems.

Common Side Effects

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.

Please see full Prescribing Information, including Boxed WARNING

INDICATION AND USAGE

Fabrazyme® is used to treat adults and children 2 years of age and older with confirmed Fabry disease.