Treatment plan for Fabry disease

Last updated Feb. 27, 2025, by Marisa Wexler, MS
Fact-checked by Ana de Barros, PhD

Developing a comprehensive treatment plan can help provide effective and personalized care for individuals living with Fabry disease.

A Fabry treatment plan is a detailed strategy tailored to an individual’s needs, and includes setting goals for care, choosing the best treatment options, and establishing a medical team that will help patients navigate their care.

Importance of a treatment plan

Fabry disease is caused by mutations in the gene that encodes the alpha-galactosidase A (alpha-Gal A) enzyme. This enzyme is normally needed to break down certain fatty molecules. In Fabry disease, dysfunction or absence of the enzyme causes these molecules to build to toxic levels in cells, ultimately causing damage that drives disease symptoms. Symptoms of Fabry disease can vary widely and may include kidney damage, heart disease, and neurological complications.

Because Fabry disease is a lifelong disorder that can cause a wide range of symptoms, it’s important to create an individualized plan for managing the condition in each individual who has it.

Developing a comprehensive treatment plan can help ensure that each patient gets the type of care that will be best for that person, with the best chance of minimizing the negative effects of the disease and maximizing the individual’s quality of life. Having a treatment plan in place can also make it easier to anticipate and navigate future issues related to the disease.

Building a Fabry treatment plan

The first step in creating a Fabry treatment plan is to assemble a Fabry care team, a multidisciplinary group of health experts who work with patients to design care plans. The core of the Fabry care team usually will be the patient’s primary physician and a genetic counselor who can provide insight into the disease’s underpinnings. The Fabry care team will also include people from various specialties who can provide guidance on specific aspects of the disease. For example, cardiologists can help manage heart health while nephrologists can work with kidney disease issues.

Once the care team is in place, a patient should work with the providers to devise a treatment plan. This will involve discussions about realistic goals for treatment and best practices as outlined by the most recent Fabry treatment guidelines. This will help inform decisions about different treatment approaches and other aspects of care.

Patients and their providers should go over the possible benefits and risks of different approaches to create a plan that works for each specific situation. Where possible, it’s best to get a version of the care plan in writing to help minimize confusion and make communication among providers easier. However, it’s important to remember that Fabry disease can change over time, so treatment plans should be flexible and may need revision as circumstances evolve.

Treatment plan essentials

Each Fabry treatment plan will be tailored to the specific patient, taking into account individual traits and preferences. However, there are some general ideas that can help to inform Fabry treatment plans overall.

Patient information

One of the most important aspects of developing a treatment plan is getting as much information as possible about the person being treated. This will include basic disease information, such as what type of Fabry disease the individual has and what symptoms the person is experiencing. Factors such as age and biological sex may also play a role in informing the treatment plan.

Treatment goals and objectives

Another key aspect of developing a treatment plan is outlining its goals. The primary aim will always be to maximize a patient’s quality of life — but exactly what this will entail can vary substantially from person to person. It’s necessary to talk about the different treatment options and how these will affect each individual, and patients should always feel empowered to discuss their preferences.

Treatment options

Two main types of Fabry treatment are available: enzyme replacement therapy and chaperone therapy.

Enzyme replacement therapy, known as ERT, works to deliver a working version of the alpha-Gal A enzyme to the body, via infusion into the bloodstream. In the U.S., ERT is available for Fabry patients ages 2 and older.

Chaperone therapy is designed to improve the activity of the alpha-Gal A enzyme within a patient’s body. This type of treatment is taken orally and is available in the U.S. for adults with Fabry disease.

Both ERT and chaperone therapy aim to slow the progression of Fabry disease, and each comes with benefits and drawbacks that should be discussed before starting treatment.

These two treatments target the underlying cause of Fabry disease. Treatments to help manage specific manifestations of the condition may also be part of the care plan. For example, patients with kidney damage may need to undergo dialysis and, in more severe cases, a kidney transplant. Individuals with heart problems, meanwhile, may take medications to promote heart health.

An effective treatment plan should provide a well-structured, comprehensive overview of the individual’s therapies, including medication names, administration schedules, potential side effects, and measurable goals. This can help patients and healthcare providers to better monitor progress and ensure that the treatment plan remains appropriate and effective over time.

Treatment timeline and costs

Fabry disease treatment is not always started as soon as a person is diagnosed. In children and adults, treatment is generally only begun in individuals who are experiencing clear symptoms of the disease. There also are some instances in which the disease is very advanced and treatment is not expected to be beneficial. An important part of the plan in such cases is to establish a timeline for when treatment will begin and how it will continue.

Another essential point to discuss when creating a Fabry treatment plan is cost. Treatments for Fabry disease can be pricey, and prescribed medicines usually need to be taken for the rest of a patient’s life to be maximally effective. Symptomatic medications for conditions such as heart and kidney problems also need to be taken into consideration. Ensuring that the treatment plan is economically viable for the patient and the family is essential.

Hospital appointments: adults and children

For people with Fabry disease, regular hospital appointments will be a major component of the treatment plan. During these appointments, patients can touch base with their care teams and undergo monitoring to check on disease symptoms.

In adults with Fabry disease, hospital appointments will usually involve:

• discussions of medical history and clinical evaluations every six months
• blood and urine tests to check organ function, typically done every six months
• yearly assessments of pain and quality of life
• tests of brain health, hearing, and vision, usually done every few years.

In children with Fabry disease, checkups — which, depending on a child’s age can be done as needed, yearly, or every few years — will usually entail:

• clinical evaluations
• assessments of pain and life quality
• blood and urine tests to check organ function
• tests of heart function
• assessments of vision, hearing, and growth
• additional tests to check the health of the kidneys and brain.

Monitoring Fabry treatment and symptoms

Although treatments for Fabry can help to slow the disease’s progression, they generally do not fully halt it, and not every therapy works for every person. Regular monitoring for Fabry symptoms is an essential part of the treatment plan.

To a certain extent, this will rely on monitoring performed during hospital or treatment center visits. Patients, though, can play a proactive role in monitoring by keeping detailed records of any symptoms, side effects, and other issues they are experiencing. Having a detailed record of the patient’s experience can help inform discussions about whether the current treatment plan is working or if modifications are needed.

Preparing for checkups

Before checkups, it’s a good idea for patients to put in writing everything that they want to discuss with their providers. This may include disease symptoms, medication side effects, and any new questions or concerns. Having a written record helps minimize the chances that something important will be forgotten or ignored. Online resources are available that provide templates for patients to use to help get their thoughts in order before meetings with their Fabry care teams.

Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.