How is Fabry disease diagnosed?
How is Fabry disease diagnosed?
A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal).
What causes the Fabry disease?
Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes , which are structures that serve as recycling centers within cells.
Is Fabry disease curable?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
Can anyone get Fabry disease?
You get Fabry disease from your parents. It’s passed down through genes. The problem is that your body can’t make an enzyme called alpha-galactosidase A, which you need to break down fatty substances like oils, waxes, and fatty acids.
What is the treatment for Fabry disease?
Fabry disease may be treated using enzyme replacement therapy with agalsidase-alpha (Replagal) or agalsidase beta (Fabrazyme) to help normalize kidney function, heart function, and blood supply to the brain. Other treatments for Fabry disease are aimed at relieving individual symptoms.
What are the symptoms of Fabry disease in children?
Not everyone who has the disease will experience all the symptoms and complications. In addition, the symptoms can change as the disease progresses. Children and teenagers with Fabry disease may have one or more of the following: Pain- Usually burning or tingling in hands and feet. Occasionally, bouts of severe pain can last for minutes to days.
What are the treatment options for Fabry disease?
Management of Fabry disease may include treatment of specific symptoms, as well as medications to prevent or slow the development of secondary complications.     Phenytoin , carbamazepine, or gabapentin may be used for episodes of severe burning pain in the hands and feet (acroparesthesias).
How old do you have to be to have Fabry disease?
Burning or tingling pain in the hands and feet. In males this can occur as early as 2 to 8 years old. In females it occurs later in childhood or adolescence. Episodes of intense pain, which can last from minutes to days, are called “Fabry crises.”. Lack of sweat production.
How did the disease Fabry disease get its name?
FD is named for Johannes Fabry, a doctor in Germany who first described its symptoms in 1898. It’s also known as Anderson-Fabry disease, for William Anderson, a British doctor who also noted it in that same year. Other names for FD are: FD has many different symptoms, making diagnosis difficult.
What does Fabry disease do to a person?
When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system. Your doctor may call Fabry disease a “storage disorder.”. It usually starts in childhood and is much more common in men than women.
How does Fabry disease impact me?
Fabry disease can impact a child or young adult’s education , with time off needed for regular hospital appointments or due to illness. Physical activities such as sports at school can be more difficult for children with Fabry disease to take part in because of the pain and tiredness caused by the disease.
Can Fabry disease be cured?
There is currently no cure. The Fabry disease may be treated using enzyme replacement therapy with agalsidase-alpha ( Replagal ) or agalsidase beta (Fabrazyme) to help normalize kidney function, heart function, and blood supply to the brain.
Does Fabry disease have a cure?
Although there is no cure for Fabry disease, a number of treatments can prevent as much organ damage and improve patients’ quality of life.