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
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.
IMPORTANT SAFETY INFORMATION
IMPORTANT SAFETY INFORMATION
Fabrazyme can cause serious side effects, including:
Severe Allergic (anaphylaxis) and Hypersensitivity Reactions
Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic (allergic) or severe hypersensitivity reactions during their infusion. Life-threatening severe anaphylactic (allergic) or severe hypersensitivity reactions have been seen in patients during Fabrazyme infusions.
- These reactions 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.
- People who have experienced these reactions have required treatment including heart/lung resuscitation, oxygen, fluids given through a vein, hospitalization, and treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenaline), and a medication given through the vein called a corticosteroid (or steroid) which helps to decrease the body’s allergic reaction by decreasing inflammation.
- If you experience a severe allergic or anaphylactic reaction, your healthcare professional will immediately stop the infusion of Fabrazyme and provide you the necessary emergency medical treatment. Because of the possibility that severe hypersensitivity reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.
In the clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are a specific kind of antibody that can sometimes be produced by the body’s immune system during an allergic reaction.
- Higher amounts of hypersensitivity reactions were seen in adult patients whose immune systems repeatedly made anti-Fabrazyme antibodies and in patients who had high antibody titers (units used to measure how much anti-drug antibody your immune system is making) compared to adult patients with negative antibody titers.
- Your doctor should consider testing for IgE antibodies if you experience suspected allergic reactions. Providing Fabrazyme to patients who have experienced severe or serious allergic reactions to Fabrazyme should only be done after carefully considering the risks and benefits of continuing the treatment, and only under the direct supervision of a qualified healthcare professional and with appropriate medical support readily available.
Infusion-Associated Reactions
In clinical studies with Fabrazyme, 59% of patients experienced infusion-associated reactions during Fabrazyme administration, some of which were severe. Infusion-associated reactions are defined as adverse reactions occurring on the same day as your infusion. During the clinical trials, infusion-associated reactions occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than in patients who did not have anti-Fabrazyme antibodies.
- For patients who have had reactions to their infusions, it is recommended that they be given anti-fever and antihistamine medications right before their next infusions. Infusion-associated reactions have happened in some patients even after taking these medications before their infusions.
- If an infusion-associated reaction occurs, slowing the infusion rate, stopping the infusion for a short time and/or giving more anti-fever and antihistamine medications and or steroids may improve the symptoms.
- If severe infusion-associated reactions happen, your healthcare professional should consider stopping the Fabrazyme infusion right away and should provide medical care for your condition. Severe reactions are generally managed by giving antihistamine medications, corticosteroids, fluids through the vein, and/or oxygen when needed. Because severe infusion-associated reactions may happen, medical treatment should be readily available during your Fabrazyme infusion.
- People with advanced Fabry disease may have heart problems which could put them at a higher risk for severe complications from infusion-associated reactions. These patients should be watched closely during their infusion if the decision is made to give them Fabrazyme.
Common and Other Possible Side Effects: 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.
Please see full Prescribing Information for Fabrazyme.
INDICATION
Fabrazyme® is used to treat adults and children 2 years of age and older with confirmed Fabry disease.
IMPORTANT SAFETY INFORMATION
Show moreIMPORTANT SAFETY INFORMATION
Fabrazyme can cause serious side effects, including:
Severe Allergic (anaphylaxis) and Hypersensitivity Reactions
Approximately 1% of patients who have received Fabrazyme either during a clinical study or after Fabrazyme was approved have experienced anaphylactic (allergic) or severe hypersensitivity reactions during their infusion. Life-threatening severe anaphylactic (allergic) or severe hypersensitivity reactions have been seen in patients during Fabrazyme infusions.
- These reactions 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.
- People who have experienced these reactions have required treatment including heart/lung resuscitation, oxygen, fluids given through a vein, hospitalization, and treatment with inhaled drugs called beta-adrenergic agonists to help open the breathing airways, antihistamines, epinephrine (also known as adrenaline), and a medication given through the vein called a corticosteroid (or steroid) which helps to decrease the body’s allergic reaction by decreasing inflammation.
- If you experience a severe allergic or anaphylactic reaction, your healthcare professional will immediately stop the infusion of Fabrazyme and provide you the necessary emergency medical treatment. Because of the possibility that severe hypersensitivity reactions may occur, appropriate medical support should be available during your Fabrazyme infusion.
In the clinical studies, some patients developed IgE antibodies or a reaction to an allergy skin test specific to Fabrazyme. IgE antibodies are a specific kind of antibody that can sometimes be produced by the body’s immune system during an allergic reaction.
- Higher amounts of hypersensitivity reactions were seen in adult patients whose immune systems repeatedly made anti-Fabrazyme antibodies and in patients who had high antibody titers (units used to measure how much anti-drug antibody your immune system is making) compared to adult patients with negative antibody titers.
- Your doctor should consider testing for IgE antibodies if you experience suspected allergic reactions. Providing Fabrazyme to patients who have experienced severe or serious allergic reactions to Fabrazyme should only be done after carefully considering the risks and benefits of continuing the treatment, and only under the direct supervision of a qualified healthcare professional and with appropriate medical support readily available.
Infusion-Associated Reactions
In clinical studies with Fabrazyme, 59% of patients experienced infusion-associated reactions during Fabrazyme administration, some of which were severe. Infusion-associated reactions are defined as adverse reactions occurring on the same day as your infusion. During the clinical trials, infusion-associated reactions occurred more frequently in patients who were positive for anti-Fabrazyme antibodies than in patients who did not have anti-Fabrazyme antibodies.
- For patients who have had reactions to their infusions, it is recommended that they be given anti-fever and antihistamine medications right before their next infusions. Infusion-associated reactions have happened in some patients even after taking these medications before their infusions.
- If an infusion-associated reaction occurs, slowing the infusion rate, stopping the infusion for a short time and/or giving more anti-fever and antihistamine medications and or steroids may improve the symptoms.
- If severe infusion-associated reactions happen, your healthcare professional should consider stopping the Fabrazyme infusion right away and should provide medical care for your condition. Severe reactions are generally managed by giving antihistamine medications, corticosteroids, fluids through the vein, and/or oxygen when needed. Because severe infusion-associated reactions may happen, medical treatment should be readily available during your Fabrazyme infusion.
- People with advanced Fabry disease may have heart problems which could put them at a higher risk for severe complications from infusion-associated reactions. These patients should be watched closely during their infusion if the decision is made to give them Fabrazyme.
Common and Other Possible Side Effects: 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.
Please see full Prescribing Information for Fabrazyme.
INDICATION
Fabrazyme® is used to treat adults and children 2 years of age and older with confirmed Fabry disease.