Fabry disease is a rare condition that can run in families. The symptoms can vary from person to person, including pain or tingling in the hands and feet and a type of rash. If you are suffering from Fabry disease, a specific type of fatty substance gets collected in the cells of your body. It affects your blood vessels by narrowing them and it can damage your kidneys, skin, heart, brain, and nervous system.
The doctor might call Fabry disease a storage disorder as well. It mostly begins in childhood and is more common in males than females. You can get this disease from your parents. It is passed to the children through genes. Onlymyhealth editorial team talked to Dr. Ashutosh Shukla, Senior Director - Internal Medicine & Medical Advisor, Max Hospital, Gurgaon, to know about the symptoms, causes and treatment of fabry disease.
Fabry disease symptoms
The signs of Fabry disease can vary depending on the type, ranging from mild to severe, and sometimes might not even appear for a long period in life. And, men might have more severe symptoms as compared to women. The main symptoms of fabry disease are:
- Tingling, numbness, pain, or buring in the hands or feet
- Intolerance for heat and cold
- Too much pain while performing any physical activity
- Dizziness
- Blurry vision
- Hearing loss
- Gastrointestinal problems
- Ringing in the ears
In some cases, fabry disease can result in more severe problems, especially in men. These include:
- Higher risk of heart attack or stroke
- Severe kidney issues, including kidney failure
- High blood pressure
- Enlarged heart
- Heart failure
- Osteoporosis
Fabry disease causes
It is a genetic condition and can happen to anyone, thus there are no specific causes of fabry disease. Children inherit a change in the galactosidase alpha gene on the X chromosome from one parent. The GLA gene produces the alpha-GAL enzyme that helps in breaking down the fatty substances. People who inherit a faulty GLA gene does not produce enough alpha-GAL enzyme. Therefore, fatty substances get collected in the blood vessels.
Fabry disease diagnosis and treatment
Early diagnosis in Fabry disease is also important. The expert might require various tests to diagnose this disease, such as:
1. Enzyme assay: This diagnosing test measures alpha-GAL enzymes in the bloodstrean. Measurements of 1% or lower result proves the positivity of the disease. An enzyme assay test is most reliable for men and should not be used in women.
2. Genetic: There is a high chance of women with Fabry disease to have normal levels of alpha-GAL enzymes, thus experts use genetic testing to know about the GLA gene mutation.
3. Newborn screenings: There are some newborn screenings or tests for Fabry disease and other lysosomal storage conditions. This enzyme test is included as a part of the routine newborn screenings.
There is no specific treatment for Fabry disease. There are medicines for pain and stomach problems that can help in managing the symptoms. There are two treatment methods that can slow down the buildup of fatty substances along with the prevention of heart problems, kidney disease and other severe complications, including:
- Enzyme replacement therapy
- Oral chaperone therapy
Fabry disease is a rare genetic disorder that can lead to serious heart and kidney problems. It is a progressive disease that worsens with time. If you have Fabry disease, you can talk to your doctor about ways to reduce the risk of stroke, heart attack and kidneys problems. Researchers are trying to develop many new therapies using genetic engineering and stem cell technologies to treat Fabry disease.