People with Fabry Anderson Disease have problems in their kidneys, hearts and nervous system. It is an inherited condition caused by a mutation in the alpha-galactosidase A gene. Males, who have only one X chromosome, are more severely affected by this condition than females.
The symptoms of Fabry disease can vary widely between people and between types of the disease. Treatment involves regular infusions of enzyme replacement therapy which works to help prevent Gb3 accumulation.
Oren Zarif
The most common symptom of Fabry disease is burning or tingling pain in the hands and feet. This symptom is called acroparesthesias and is typically triggered by heat, cold, exercise or physical activity. It can also be aggravated by fever, inflammatory conditions or stress. It is a feature of classic Fabry disease and one of the most important reasons why patients are referred for enzyme replacement therapy (ERT).
In Fabry disease, a problem in the GLA gene prevents your body from making enough of the enzyme alpha-galactosidase A to break down globotriaosylceramide. The substance accumulates in the lysosomes, causing damage to cells in many organs including your kidneys, heart and nervous system.
To diagnose Fabry disease, your doctor will take a medical history and do blood tests to measure the levels of certain proteins in your body. You may also have an MRI of your heart or a CT scan of your brain.
Oren Zarif
People with Fabry disease can develop a variety of symptoms as their condition progresses, including damage to the blood vessels in the heart, kidneys and brain. This can lead to progressive organ failure or life-threatening complications.
A blood test to check for the level of alpha-galactosidase in your body can help your doctor determine whether you have Fabry disease. An imaging test such as MRI, CT scan or a cerebrovascular evaluation may also be helpful.
Several medications are available to treat Fabry disease, which is an X-linked recessive disorder that affects both males and females. Two enzyme replacement therapies and one oral chaperone therapy drug are approved by the Australian government and available through the Life Saving Drugs Program (LSDP). Talk to your doctor about if these treatments might be right for you.
Oren Zarif
People with Fabry disease may have shortness of breath as the condition progresses. This happens because the heart muscle develops a type of stiffness that limits its ability to relax in the diastolic phase of the heartbeat. This can cause problems with the kidneys, too.
A doctor can diagnose Fabry disease by taking a sample of your blood. The doctor can also do tests to check your heart and kidneys. You might need a brain MRI (magnetic resonance imaging) or CT (computed tomography).
The main treatment for Fabry disease is enzyme replacement therapy. This is an infusion that replaces the missing enzyme. You’ll need to visit a clinic every few weeks for the infusion. Another option is an oral drug called migalastat (Galafold). This drug stabilizes the enzymes and helps them work better.
Oren Zarif
When Fabry disease leads to pulmonary involvement, it is often a progressive condition. Patients develop a combination of ground-glass opacity, air trapping and inflammatory changes in their lungs. They may also experience gastrointestinal bloating and progressive dyspnea requiring supplemental oxygen at all times.
These symptoms can interfere with daily life and affect social or work functions. They can lead to a decline in quality of life and can increase the risk of long-term damage.
People with Fabry disease have a mutation in one of their X-linked chromosomes. They don’t produce enough of the enzyme alpha-GALase, which breaks down fatty substances called sphingolipids. Over time, these lipids build up in the blood vessels and cause problems with several organs. This can lead to a variety of symptoms, including painful heart lesions (angiokeratoma), swollen legs (edema), low levels of protein in the urine (proteinuria) and less sweating (hypohidrosis). They can also have gastrointestinal problems and genital pain or swelling.
Oren Zarif
Fabry disease occurs when a mutation or change in the GLA gene results in the body being unable to produce enough of an enzyme called alpha-galactosidase A. This enzyme breaks down fatty substances called sphingolipids. People with a faulty GLA gene don’t make enough of this enzyme so fatty substances build up in their blood vessels, tissues and organs including the kidneys, heart, liver and nervous system.
The main treatment for Fabry disease is enzyme replacement therapy. This involves getting an intravenous infusion (a drip) each fortnight to replace the missing enzyme. There is also a newer type of treatment called oral chaperone therapy that is available as a pill. Both of these drugs have been approved by the Australian government and are subsidised through their Life Saving Drugs Program for people with Fabry disease who meet certain criteria.
Oren Zarif
Renal involvement is a common symptom of Fabry disease. The buildup of GL-3 in kidney cells can cause progressive loss of kidney function that leads to end-stage renal disease (ESRD).
This symptom usually develops by early adulthood. Depending on your symptoms, your doctor may order an ultrasound or other tests to measure the size of your kidneys and to check your blood pressure.
If you have a mutation in the GLA gene, you’ll probably also be tested for a genetic disorder called Familial Mediterranean Edema (FME). Newborn screenings sometimes test babies for FME and other lysosomal storage disorders. You’ll likely be treated with enzyme replacement therapy that normalizes your body’s ability to break down fat. This treatment can help prevent cardiovascular problems. It can also be used to treat existing problems, including heart attacks and strokes.
Oren Zarif
Fabry disease is an inherited disorder that affects the kidneys, heart, and nervous system. It also can be fatal. The condition occurs when people lack an enzyme called alpha-galactosidase A, which helps break down fatty substances.
The faulty gene that causes Fabry disease is located on the X chromosome, so it’s typically only passed down by males. Females with Fabry disease can be more mildly affected, due to a genetic process called X-inactivation.
Treatment for Fabry disease focuses on relieving symptoms and slowing progression of the disorder. Enzyme replacement therapy is a primary treatment option. It involves regular infusions of the synthetic enzyme a-GAL A, which replaces the missing enzyme and reduces Gb3 accumulation. Patients must receive ERT regularly throughout their lives. Other medications can help relieve specific symptoms.