March 27, 2022

A Guide to Fabry Disease

Specialty Infusion Blog Derick

What is Fabry disease? 

Fabry disease is a genetic disease that occurs due to a mutation in a gene. An individual who receives this gene is unable to make adequate alpha-galactosidase A, or alpha-GAL, a vital enzyme. Alpha-GAL removes a fatty molecule known as globotriaosylceramide, or GL-3, by breaking it down. There was insufficient production of active alpha-GAL in a patient with Fabry disease, which is why GL-3 accumulates in the cells rather than being eliminated. As GL-3 accumulates in the blood vessels and their walls and other tissues over time, it becomes more and more dangerous. The heart, kidneys, and brain are all major organ systems that may ultimately stop working correctly, posing a life-threatening hazard. In Fabry disease, the most significant symptoms generally appear in the fourth or fifth decade of life. On the other hand, signs and symptoms may arise considerably sooner. The treatment and management of the disease may start early if it is diagnosed early.

Occurrence of Fabry disease

Classic Fabry disease affects around 1 in every 40,000 men. Atypical Fabry disease, also known as Late-onset Fabry disease, is more prevalent. It affects around 1 out of every 1,500 to 4,000 men.

Researchers are still looking into how many women are affected by Fabry disease. The illness remains undetected commonly in women because some females have no symptoms or have minor, easy-to-ignore signs.

Types of Fabry disease

The different kinds of Fabry disease are determined by the age at which symptoms first show. The following are different types:

 Classic type: 

The symptoms of classic Fabry disease first occur in childhood or adolescence. One of the most common symptoms of the condition is a severe burning feeling in the hands and feet, which may start as early as age two. With the passage of time, the symptoms get more severe.

Late-onset/atypical type: 

Symptoms of late-onset Fabry disease don’t appear until people are in their 30s or older. Renal failure or heart disease may be the earliest signs of a problem.

Causes of Fabry Disease

Fabry disease is inherited from one generation to the next.

The main issue is that your body is unable to produce alpha-galactosidase A, an enzyme required for the breakdown of fatty compounds such as oils, waxes, and fatty acids. The patients with Fabry disease either don’t have the enzyme or it isn’t working properly.

Symptoms of Fabry Disease

The following are the symptoms of Fabry disease:

  • Cloudy vision
  • Hearing loss
  • Ringing in the ears
  • Bowel movements, stomach pain
  • Burning and pain in the hands
  • The appearance of small, dark red spots between knees and bellybutton

Management and Treatment of Fabry disease

Fabry disease has no known cure. Medications for pain and gastrointestinal issues may help to alleviate discomfort. There are two therapies that may help to avoid heart issues, renal illness, and other life-threatening effects by slowing the accumulation of fatty substances:

Enzyme replacement therapy:

An intravenous (IV) infusion of agalsidase beta enzyme (Fabrazyme®) prepared in the lab is given every two weeks to the patient. This replacement enzyme performs the functions of the lost alpha-GAL enzyme, preventing the accumulation of fatty compounds. To avoid an allergic reaction, you may be given an antihistamine and other drugs before starting treatment.

Fabrazyme (agalsidase beta) has been selected to treat over 5000 Fabry disease patients throughout the world, independent of the severity of the illness, enzyme activity, or kind of genetic mutation.

Oral chaperone therapy: 

The repairing of the alpha-GAL enzyme can be done by Chaperones, which are tiny molecules that help in the repair process when it is damaged. The fatty material may subsequently be broken down by the repaired enzymes. Every other day, you take a tablet (migalastat [Galafold®]) to stabilise the malfunctioning alpha-GAL enzyme using this medication. This drug is not suitable for everyone with Fabry disease. If you are fit for this medication, it depends on your exact genetic mutation in the GLA gene.

With the help of stem cell technologies and genetic engineering, researchers are actively working to launch new treatments.