Our Therapies

Fabry Disease Infusion Therapy

Fabry disease is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). This enzyme deficiency leads to the progressive accumulation of a fatty substance called globotriaosylceramide (Gb3) in cells throughout the body, particularly in the kidneys, heart, and nervous system. Fabry disease is an X-linked genetic condition, meaning it primarily affects males, though females can also be affected. Symptoms typically begin in childhood or adolescence and worsen over time. Without treatment, Fabry disease can lead to serious complications including kidney failure, heart disease, and stroke. Enzyme replacement therapy (ERT) delivered via infusion is the primary treatment, helping to reduce Gb3 accumulation and manage symptoms.

Symptoms

Common symptoms of Fabry Disease include:

Burning or tingling pain in the hands and feet (acroparesthesia)
Decreased ability to sweat (anhidrosis) or excessive sweating
Skin rash (angiokeratomas) — small, dark red spots on the skin
Gastrointestinal problems (nausea, diarrhea, abdominal pain)
Clouding of the cornea (corneal opacity)
Hearing loss or ringing in the ears (tinnitus)
Fatigue
Kidney problems (proteinuria, progressive kidney disease)
Heart problems (enlarged heart, arrhythmias)
Stroke or transient ischemic attacks (TIAs)
Less common symptoms may include:
Dizziness
Shortness of breath
Swelling in the legs and feet

Symptoms can vary widely between individuals and may worsen with age. Females may experience milder symptoms than males but can still develop serious complications. Early diagnosis and treatment are critical to slowing disease progression and preventing organ damage.

Treatment Options

Treatment options for Fabry Disease include:

Enzyme Replacement Therapy (ERT):
- Agalsidase alfa (Replagal)
- Agalsidase beta (Fabrazyme)
- Administered via intravenous infusion every two weeks
Chaperone Therapy:
- Migalastat (Galafold) — an oral medication for patients with amenable mutations
Substrate Reduction Therapy:
- Under investigation as an alternative approach
Symptom Management:
- Pain medications (e.g., gabapentin, carbamazepine for neuropathic pain)
- ACE inhibitors or ARBs for kidney protection
- Antiarrhythmic medications for heart complications
- Anticoagulants to reduce stroke risk
Kidney Care:
- Dialysis or kidney transplant for end-stage renal disease
Cardiac Care:
- Pacemakers or defibrillators for arrhythmias
Genetic Counseling:
- For patients and family members
Regular Monitoring:
- Kidney function, cardiac imaging, neurological assessments

Treatment plans are individualized based on the patient's specific mutation, symptom severity, and organ involvement. The goal is to reduce Gb3 accumulation, slow disease progression, and improve quality of life.

Living With

Living with Fabry disease requires ongoing management of a complex, multi-system condition. Patients typically receive enzyme replacement therapy infusions every two weeks, which can be administered at an infusion center or at home. Regular monitoring of kidney, heart, and neurological function is essential to track disease progression. Managing chronic pain is a significant challenge for many patients, and a combination of medications and lifestyle adjustments may be needed. Fatigue is common and can impact daily activities, work, and social life. Dietary modifications, such as reducing fat intake, may help manage gastrointestinal symptoms. Emotional support and mental health care are important, as living with a rare chronic disease can be isolating. Patient advocacy organizations and support groups provide valuable resources and community connections. With advances in enzyme replacement therapy and emerging treatments, many patients with Fabry disease can maintain a good quality of life and slow the progression of organ damage.