Fabry disease is a rare, X-linked genetic disorder that affects the way the body breaks down a specific type of fat, called globotriaosylceramide (Gb3). Gb3 can build up in cells throughout the body, including the heart, kidneys, skin, and nervous system. This buildup can lead to a variety of health problems, including heart failure, kidney failure, stroke, and pain.
Fabry disease is caused by a mutation in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A (α-Gal A). α-Gal A is responsible for breaking down Gb3. When the GLA gene is mutated, the body does not produce enough α-Gal A, or the α-Gal A that is produced does not work properly. This leads to a buildup of Gb3 in the cells.
Fabry disease is a progressive disorder, meaning that it gets worse over time. The symptoms of Fabry disease can vary widely from person to person, and can start at any age. Some people with Fabry disease may only have mild symptoms, while others may have severe symptoms that can lead to life-threatening complications.
Symptoms of Fabry Disease
The symptoms of Fabry disease can vary depending on the severity of the disease and the organs that are affected. Some of the most common symptoms of Fabry disease include:
- Burning pain in the hands and feet
- Skin rashes
- Fatigue
- Difficulty sweating
- Gastrointestinal problems
- Hearing loss
- Eye problems
- Heart problems
- Kidney problems
- Neurological problems
Diagnosis of Fabry Disease
Fabry disease can be diagnosed with a blood test to measure the levels of α-Gal A and Gb3. A genetic test can also be done to identify the GLA gene mutation.
Treatment of Fabry Disease
There is no cure for Fabry disease, but there are treatments available to help manage the symptoms and slow the progression of the disease. The main treatment for Fabry disease is enzyme replacement therapy (ERT). ERT involves infusing a synthetic form of α-Gal A into the body. This helps to break down the buildup of Gb3 in the cells.
ERT is a lifelong treatment, but it can be very effective in managing the symptoms of Fabry disease and improving the quality of life for people with the disease.
Fuse Infusion
Fuse infusion (agalsidase beta) is a brand-name ERT medication that is used to treat Fabry disease. Fuse infusion is given once every two weeks as an intravenous (IV) infusion.
Fuse infusion has been shown to be effective in reducing the buildup of Gb3 in the cells, improving heart function, and reducing the frequency of pain episodes. Fuse infusion is also well-tolerated, with few side effects.
Benefits of Fuse Infusion
Fuse infusion offers a number of benefits for people with Fabry disease, including:
- Improved heart function
- Reduced frequency of pain episodes
- Reduced risk of stroke
- Improved kidney function
- Improved quality of life
Side Effects of Fuse Infusion
Fuse infusion is generally well-tolerated, but some people may experience side effects such as:
- Headache
- Fatigue
- Chills
- Fever
- Muscle pain
- Allergic reactions
Conclusion
Fuse infusion is a safe and effective treatment for Fabry disease. It can help to improve heart function, reduce the frequency of pain episodes, and improve the quality of life for people with the disease.
If you are interested in learning more about Fuse infusion, talk to your doctor.
