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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.
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
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.
left heart chamber
45% have abdominal pain
43% have nerve pain
39% have diarrhea
39% have protein in their urine
Gastrointestinal (GI) symptoms and neuropathic (nerve) pain could be red flags suggesting that dangerous underlying organ damage is occurring.
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.
Impaired kidney function
Strokes and ministrokes
Skin and nerve conditions
MAKE YOUR HEALTH A PRIORITY BY SCHEDULING ROUTINE ASSESSMENTS WITH YOUR DOCTOR TO MONITOR ORGAN FUNCTION.
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.
Pre- vs post-treatment analysis of long-term Fabrazyme outcomes in a large group of
female patients with Fabry disease
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
Kidney function (eGFR) was assessed before and after treatment with Fabrazyme
Median patient age at…
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).
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.
Estimated† eGFR decline:
-0.83 mL/min/1.73 m2 each year
Estimated† eGFR decline:
-0.95 mL/min/1.73 m2 each year
†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.
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.
IN THE US ARE ON FABRAZYME TREATMENT*
*Data on file.
FABRY IS PROGRESSIVE, AND ERT SHOULD BE CONSIDERED AT EARLY SIGNS OF DISEASE IN FEMALES.
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.
Managing and monitoring Fabry disease is important for maintaining your health. It’s important to take charge of your disease.MONITORING FABRY DISEASE
For patients 2 years and up with Fabry disease,
regardless of genetic variant, gender or disease severity.