Until the availability of enzyme replacement therapy, there was not a specific treatment for Fabry disease. Doctors managed their patients' signs and symptoms with measures such as medications for pain or dialysis for kidney failure. Today, those measures still play a role in treatment, but it is also possible to replace the deficient enzyme using Fabrazyme® (agalsidase beta).
Treatment with Fabrazyme is not a cure for Fabry disease; that is, it does not correct the genetic defect. Fabrazyme reduces GL-3 in certain cells. Treatment with Fabrazyme may improve signs and symptoms of Fabry disease; however, the relationship between GL-3 reduction and specific signs and symptoms has not been established. In order to benefit from the treatment, patients need to receive regular infusions. See Continuing Treatment to learn more.
If you are just starting treatment with Fabrazyme, you may have many questions. In the What to Expect section, you can learn about the possible effects of Fabrazyme and what to expect during the infusion process.
Fabry Voices "Before I was diagnosed, I began going to doctors when I was in my
twenties. They told me that I had arthritis, mono, bronchitis-many, many
things like that. At age 30 I saw a rheumatologist who did some blood
tests and referred me to another doctor who researched my symptoms and
said it was probably Fabry disease. Another blood test confirmed the
diagnosis."
- Adrian, age 30
Connecting with Others Whether you’ve just been diagnosed with Fabry disease or are just starting treatment, you may find it helpful to connect with others in a similar situation. Visit one of the many patient information and support websites to link up to others with Fabry disease. Go to Patient Support Networks for more information.
Fabrazyme (agalsidase beta) is indicated for use in patients with Fabry
disease. Fabrazyme reduces globotriaosylceramide (GL-3) deposition in
capillary endothelium of the kidney and certain other cell types. The
reduction of GL-3 inclusions suggests that Fabrazyme may ameliorate disease
expression; however, the relationship of GL-3 inclusion reduction to
specific clinical manifestations of Fabry disease has not been established.
The most serious and most common adverse reactions reported with Fabrazyme
are infusion reactions. Serious and/or frequently occurring related adverse
reactions consisted of one or more of the following events: chills, pyrexia,
feeling hot or cold, dyspnea, nausea, flushing, headache, vomiting,
paresthesia, fatigue, pruritus, pain in extremity, hypertension, chest pain,
throat tightness, abdominal pain, dizziness, tachycardia, nasal congestion,
diarrhea, edema peripheral, myalgia, back pain, pallor, bradycardia,
urticaria, hypotension, face edema, rash, and somnolence. The occurrence of
somnolence can be attributed to clinical trial specified pre-treatment with
antihistamines.
Other reported serious adverse events included stroke, pain, ataxia,
bradycardia, cardiac arrhythmia, cardiac arrest, decreased cardiac output,
vertigo, hypoacousia, and nephrotic syndrome. These adverse events also
occur as manifestations of Fabry disease; an alteration in frequency or
severity cannot be determined from the small numbers of patients studied.
Infusion reactions occurred in many patients treated with Fabrazyme and some
of the reactions were severe. Patients should be given antipyretics prior
to infusion. Infusion reactions occurred in some patients after receiving
pretreatment with antipyretics, antihistamines, and oral steroids. Infusion
reactions declined in frequency with continued use of Fabrazyme. However,
infusion reactions may still occur despite extended duration of Fabrazyme
treatment. Because of the potential for severe infusion reactions,
appropriate medical support measures should be readily available when
Fabrazyme is administered.
Patients with compromised cardiac function should be monitored closely if
the decision is made to administer Fabrazyme.
Most patients develop IgG antibodies to Fabrazyme. A few patients developed
IgE or skin test reactivity specific to Fabrazyme. Physicians should
consider testing for IgE in patients who experienced suspected allergic
reactions and consider the risks and benefits of continued treatment in
patients with anti- Fabrazyme IgE. Patients with Fabrazyme- specific IgE
antibody have been treated using a rechallenge protocol. Rechallenge of
these patients should only occur under the direct supervision of qualified
personnel, with appropriate medical support measures readily available.
The safety and efficacy in patients younger than 8 years of age have not
been evaluated. IgE immunologic responses in pediatric patients may differ
from those in adults, as IgG seroconversion was associated with prolonged
half-life concentrations of Fabrazyme, which is rarely observed in adult
patients.
Fabrazyme is available by prescription only. Side effects should be reported
promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn
more, please see the full
prescribing information (PDF) or contact Genzyme at 1-800-745-4447.
If you have Fabry disease, other people in your family may also want to be tested. Find out why. More >
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