Fabry Disease Infusion Centers

With local infusion centers across the country, Fabry Disease patients requiring ongoing biologic infusions or injections relax in privacy and comfort during treatment.

Intentionally designed for Fabry Disease patients.

Private Suites

Guaranteed for all patients, with leather recliners and chairs for guests

On Your Schedule

Local centers offer flexible scheduling, including evenings and weekends

Goodbye Waiting

Greeted by name at check-in, patient suites are always ready when you arrive

Sit Back and Relax

In-room streaming options so you can catch up on your favorite shows

Caring for those with Fabry Disease.

Simply put, patients with Fabry Disease who need ongoing infusion or injection treatment deserve better options for when, where and how they receive care.

Located in the communities where people live and work, IVX Health serves those with complex chronic conditions like Fabry Disease by delivering high-quality, personalized care in a private, comfortable setting so patients can continue to live their best lives.

What is Fabry Disease? 

Fabry disease is a genetic disorder resulting from a fat buildup in the body’s cells due to an enzyme deficiency. Some features of Fabry disease include episodes of pain primarily in the hands and feet, clusters of small dark red spotting on the skin (angiokeratomas), decreased ability to sweat (hyperhidrosis), cloudiness or streaking in the frontal part of the eye, ringing in the ears (tinnitus), hearing loss, and gastrointestinal issues. 

How is Fabry Disease Diagnosed and Treated? 

Healthcare providers will likely conduct one or more of the following tests to diagnose Fabry disease: 

  • Enzyme assay: this test measures levels of alpha-GAL enzymes in the blood. Individuals with Fabry disease will have a measurement of 1% or lower. This test is generally only used for males. 
  • Genetic screening: Because Fabry disease is genetic, DNA sequencing can be used to identify if the patient has the GLA gene mutation that causes Fabry disease. 
  • Newborn screenings: Some providers will test newborns for Fabry disease through an enzyme test. 

There is no cure for Fabry disease. The two primary treatments used are biologic enzyme replacement infusions or oral treatment. 

How Does IV Infusion Therapy for Fabry Disease Work? 

IV infusion for Fabry disease involves administering medication through an infusion pump that drips the medication into a catheter to a syringe and through a hollow needle into the patient’s bloodstream. Treatments are usually given every two weeks, with each infusion lasting roughly between two-three hours. 

Fabry Disease Therapies Administered at IX Health 

The following infusion and injection therapies are administered at IVX Health. 

Fabry Disease Management at IVX Health 

Each IVX Health patient receives excellent care from Advanced Registered Nurse Practitioners (ARNPs) and Registered Nurses (RNs). 

The benefits of receiving infusion treatments for Fabry disease at IVX Health include: 

  • Private suites 
  • Comfortable, leather recliners 
  • Enough room and plenty of seating for guests 
  • A friendly clinical staff 
  • Personalized service 
  • High-speed internet 
  • Complimentary beverages and snacks 
  • Flat-screen television sets provide a way for patients to stream their favorite movies and watch the shows they love 
  • Flexible scheduling options (including evening and weekend appointments) 

What to Expect During Treatment of Fabry Disease  

Step One 

Using a thin, very small catheter, one of IVX Health’s nurses creates an intravenous line (aka IV line) into the patient’s arm vein. 

Step Two 

After placing the IV line, the nurse connects it to tubing that leads up to the medication. The medication is then dispersed into the patients bloodstream over a specified period of time. 

During treatment, patients are continuously monitored by one of IVX’s nurses. If a patient requires assistance, he or she just needs to press the call button. 

There are times when a patient experiences a reaction to the medication he or she is receiving; therefore, patients need to recognize the symptoms associated with an allergic reaction. 

Signs of a potential allergic reaction include developing a headache, feeling nauseous, difficulty breathing and developing a rash. Patients experiencing these symptoms need to contact their nurse right away. 

How to Get a Referral for Fabry Disease IV Infusion Treatment 

Every referral must be accompanied by an order for treatment. 

Patient information should include: 

  • Name 
  • Current address 
  • Home and mobile phone number 
  • Insurance information 

Information the physician must include on the patient’s order for IV therapy to treat Fabry disease include: 

  • Patient’s name and DOB 
  • Order date 
  • Diagnosis 
  • Physician’s name and NPI# 
  • Office address, phone, and fax numbers 
  • Provider’s signature 

Supporting clinical documentation from the physician should include: 

  • Clinicals to support that the patient has Fabry disease 

Due to the complexity of treatment, prior authorization is often required. Prior authorization is the process of getting approval for treatment from the patient’s healthcare provider before beginning treatment. It’s important to check in with your healthcare provider to see if a prior authorization will be needed for your infusion or injection treatment at IVX Health. 

If you have Fabry disease, and you would like to learn more about the IV infusion therapy for Fabry disease available at IVX Health centers, contact us today. 

What is Fabry Disease?

Fabry disease, also known as Anderson-Fabry disease, is a rare genetic condition where the body lacks the enzyme alpha-galactosidase A (α-GAL A). This can lead to the buildup of a lipid called globotriaosylceramide (Gb3) in various tissues, which may cause discomfort and symptoms like pain, kidney issues, heart problems, and skin changes. The condition is linked to mutations in the GLA gene on the X chromosome, and while it often affects males more severely due to having just one X chromosome, females can be carriers and experience a range of symptoms. The buildup of Gb3 can impact several organ systems, including the skin, eyes, kidneys, heart, brain, and nervous system. This may lead to complications such as kidney failure, heart disease, or stroke, which can significantly affect everyday life. It’s important to know that support and treatments are available to help manage these challenges, and many people find comfort in connecting with others who understand their journey.

What causes Fabry Disease?

Genetic Mutation

The root cause of Fabry disease is a mutation in the GLA gene. This gene carries the blueprint for producing the enzyme alpha-galactosidase A, which is crucial for breaking down a specific type of fat called globotriaosylceramide (GL-3) in the body’s cells. When there’s a mutation, the enzyme isn’t produced correctly, leading to its deficiency. As a result, GL-3 accumulates in the blood vessels, tissues, and organs, causing a wide range of symptoms and complications over time, including pain, kidney dysfunction, heart problems, and skin lesions.

X-linked Inheritance

Being an X-linked disorder, Fabry disease predominantly affects males. This is because males have one X and one Y chromosome, so a single mutated gene on the X chromosome will cause the disease. Females, having two X chromosomes, are typically carriers if only one of their X chromosomes has the mutation, which means they might pass the gene to their offspring. In some cases, females may also exhibit symptoms, although typically less severe than in males. However, due to the process of X-inactivation, some females can experience significant symptoms that affect their quality of life, including pain, gastrointestinal issues, and cardiac problems. Understanding these causes is essential for early diagnosis and effective management of Fabry disease, ensuring that patients receive the appropriate care and support to mitigate the impact of the disorder.

Symptoms of Fabry Disease

Understanding and recognizing the diverse symptoms of Fabry disease can aid in early diagnosis and management, ultimately enhancing patients’ quality of life. Regular check-ups and a multidisciplinary approach are vital for addressing this complex condition.

Key Symptoms of Fabry Disease

  1. Pain and Burning Sensations: Many patients initially experience discomfort in the form of pain and burning sensations, known as acroparesthesias, often felt in the hands and feet. These feelings can be triggered by stress, physical activity, or changes in temperature and may vary in intensity. It’s important to recognize that you’re not alone in this experience.
  2. Skin Lesions: Some may notice small dark red to blue-black spots called angiokeratomas appearing on the lower trunk, thighs, and around the belly button. While they are generally harmless, they can sometimes cause mild itching or concern about appearance. Remember, these spots are a common part of the journey.
  3. Eye and Neurological Abnormalities: Patients might develop corneal opacities which usually don’t affect vision, as well as retinal vessel tortuosity that should be monitored to prevent future issues. It’s also important to be aware of the increased risk of transient ischemic attacks (TIAs) or strokes, characterized by sudden numbness, confusion, or loss of coordination. Staying informed can help you manage these risks.
  4. Gastrointestinal and Kidney Issues: Many individuals may experience abdominal discomfort, cramping, diarrhea, and nausea, which can be challenging in daily life. Fabry disease may also lead to kidney issues, presenting as proteinuria and swelling. It’s crucial to seek support for these symptoms as they arise.
  5. Cardiac Problems: Fabry disease can also impact the heart, leading to left ventricular hypertrophy and a higher risk of arrhythmias and heart attacks. Symptoms like shortness of breath and palpitations can be concerning, so keeping in touch with healthcare providers is essential for reassurance and care.
  6. Hearing Loss and Sweating Abnormalities: Many may face progressive hearing loss, tinnitus, and vertigo, which can affect daily communication. Additionally, some patients experience reduced sweating (hypohidrosis) or complete lack of sweating (anhidrosis), which can make temperature regulation tricky. Finding ways to cope with these changes can help you feel more comfortable.
  7. General Fatigue: Chronic fatigue and feelings of malaise are common and can impact daily activities and productivity. This tiredness may arise from pain or organ dysfunction, and it’s important to acknowledge these feelings as you navigate daily life. Remember to take time for self-care and seek support when needed.

How to Diagnose Fabry Disease

Early diagnosis is key to effectively managing Fabry disease, allowing for timely interventions that can greatly improve a patient’s quality of life. Here’s a simplified guide to the main steps in diagnosing Fabry disease.

Clinical Evaluation

Diagnosis begins with a thorough clinical evaluation and patient history. Doctors look for telltale symptoms like pain in the hands and feet (acroparesthesia), skin lesions (angiokeratomas), gastrointestinal issues, and unexplained fevers. Corneal opacities, which don’t affect vision, can also be a clue.

Enzyme Activity Assay

One important test is the enzyme activity assay, which measures levels of alpha-galactosidase A in the blood. Low levels suggest Fabry disease. This test is very reliable in males, who typically show much lower enzyme activity. In females, levels can vary, making the test less definitive but still helpful for diagnosis. Genetic testing further confirms the diagnosis by identifying mutations in the GLA gene. This test is beneficial for finding carriers among female relatives and for family planning, as it helps identify family members who may benefit from early treatment. It’s a simple procedure that can be done with a blood sample or cheek swab. We’re here to support you and your family every step of the way.

Imaging Studies

Echocardiograms and MRI scans help assess organ involvement, especially in the heart and kidneys. Echocardiograms can detect structural issues like hypertrophic cardiomyopathy, while MRI scans provide detailed images of these organs. These studies are essential for monitoring disease progression and planning treatments.

Biopsy

In some cases, a kidney or skin biopsy may be needed to check for the buildup of globotriaosylceramide (Gb3). Examining biopsy samples under a microscope can confirm Fabry disease. This invasive procedure is typically reserved for situations where other methods are unclear or confirmation is critical for treatment. In summary, diagnosing Fabry disease involves several steps: clinical evaluation, enzyme assays, genetic testing, imaging studies, and sometimes biopsies. Early and accurate diagnosis is vital for effective disease management and better patient outcomes.

Standard Treatment Options for Fabry Disease

Effectively treating Fabry disease necessitates a comprehensive, multi-disciplinary approach to address the diverse symptoms and complications associated with the condition. Below are key treatments that have shown significant impact. 

  • Enzyme Replacement Therapy (ERT): ERT is the foundational treatment for Fabry disease, utilizing regular intravenous infusions of synthetic alpha-galactosidase A to compensate for the deficient enzyme. This therapy aims to diminish the accumulation of globotriaosylceramide (Gb3) in cells, alleviating symptoms and mitigating organ damage. Benefits of ERT include improved kidney function, reduced cardiac complications, and enhanced overall quality of life. Chaperone Therapy Chaperone therapy works by stabilizing the patient’s dysfunctional enzyme, thereby improving its function. This approach is particularly beneficial for individuals with specific genetic mutations that allow for the production of a partially active enzyme. The chaperone binds to the defective enzyme, facilitating a more efficient breakdown of Gb3, which leads to significant symptom relief and a slowdown in disease progression.
  • Pain Management: Effective pain management is critical, given the prevalence of neuropathic pain in Fabry disease patients. This typically includes the administration of medications such as anticonvulsants and antidepressants to alleviate nerve pain. Additionally, physical therapy and lifestyle modifications can further mitigate discomfort, supported by a compassionate care team focused on identifying optimal pain management strategies.
  • Kidney Protection: Protecting kidney function is vital, as renal complications represent a significant concern in Fabry disease. Medications such as ACE inhibitors and angiotensin receptor blockers (ARBs) are frequently employed to safeguard renal health and manage blood pressure. Regular monitoring of kidney performance is essential for assessing treatment effectiveness and making necessary adjustments.
  • Cardiac Care: Ongoing cardiac monitoring is crucial due to the risk of complications such as heart failure or arrhythmias. Treatment strategies may encompass the use of medications designed to manage blood pressure, reduce cardiac workload, and address arrhythmias. In certain instances, surgical interventions such as pacemakers or implantable cardioverter-defibrillators (ICDs) may be warranted.
  • Gene Therapy: represents an innovative frontier in the treatment of Fabry disease, with the objective of rectifying the underlying genetic defect by delivering a functional copy of the GLA gene. While still in the experimental stage, preliminary findings suggest that gene therapy may offer a durable solution by enabling the body to produce its own alpha-galactosidase A.

Biologic Options for Fabry Disease at IVX

Biologics are a remarkable type of medication derived from living organisms. They specifically target the metabolic pathways impacted by Fabry disease, offering immense hope for those affected. At IVX, we’re proud to offer leading biologics that make a real difference in our patients’ lives, including:

  • ELFABRIO™: an innovative biologic for Fabry disease, using a pegylated alpha-galactosidase A enzyme to reduce globotriaosylceramide (Gb3) buildup in organs, offering extended circulation time, enhanced efficacy, stable enzymatic activity, symptom relief, improved organ function, and better quality of life. 
  • FABRAZYME®: a well-established biologic that supplements the deficient enzyme needed to break down Gb3 deposits in those with Fabry disease, helping to mitigate symptoms, prevent organ damage, and enhance overall health outcomes through regular infusions, making it a trusted choice for effective management. 

Final Thoughts

Fabry disease is a complex condition that requires a comprehensive and dedicated approach for effective management. Understanding its genetic roots and recognizing its wide array of symptoms is crucial for improving patients’ quality of life. Early diagnosis and a well-rounded treatment plan can make a significant difference. 

If you or a loved one is dealing with Fabry disease, our compassionate team of specialists is here to help. At our facility, we are dedicated to providing compassionate, expert care to ensure you receive the best possible support. Reach out to us today to learn more about how we can support you on this journey. Being known is being cared for. 

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