Cardiac Care in Fabry Disease
Heart disease is common in Fabry disease patients, and those with the disease should be vigilant about taking steps to optimize their cardiac care.
Fabry disease is a rare genetic disorder characterized by the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in the cells and tissues of the body due to the deficiency of an enzyme called alpha-galactosidase A.
Without proper medical care, heart disease can be fatal. Here are some tips about caring for your heart if you have been diagnosed with Fabry disease.
Get a complete blood count and ECG
You already would have undergone a blood test as one of the diagnostic procedures to confirm Fabry disease. It also is a good idea to get a complete blood count (CBC) and an electrocardiogram (ECG) test done.
Several parameters in the CBC, such as white blood cell (WBC) counts, can help predict heart disease. An ECG can identify irregularities in the electrical impulses of the heart and can tell if any part of the heart is not working as it should.
Stay physically active
An active lifestyle is important for good heart health. Engaging in physical activity such as a walk or moderate exercise can help lower stress, manage body weight, and aid in metabolism. However, it is important not to overexert yourself, since exercise is one of the risk factors for a Fabry crisis. Consult a physiotherapist before starting any exercise.
Ensure proper nutrition
Proper diet plays a crucial role in the management of Fabry disease symptoms and especially in promoting a healthy heart. Some of the recommended dietary changes for a healthy heart include switching to a low-fat diet, reducing salt intake, and replacing unhealthy fats with healthy fats. Consult your doctor or dietitian before making dietary changes and make sure you do not consume any foods you may be allergic to. Time and space your meals throughout the day to maintain consistent energy levels. Avoiding alcohol, caffeine, and nicotine also is very important for a healthy heart.
Start ERT early
Enzyme replacement therapy (ERT) such as Fabrazyme can substitute for the deficient alpha-galactosidase A enzyme in Fabry disease patients. Research has shown that ERT can be beneficial in clearing the Gb3 buildup in the blood vessels of the heart and also can decrease the enlarged size of the left ventricle. It is important that ERT is started as soon as a Fabry disease diagnosis is confirmed; ERT should be continued with high regularity unless advised otherwise by the doctor.
Act immediately upon warning signs of heart failure
The risk of heart failure for Fabry disease patients is high, so it is important to stay vigilant about your heart’s health. Watch for warning signs of heart failure such as shortness of breath, persistent coughing, lack of appetite, nausea, confusion, increased heart rate, and edema (buildup of fluids in body tissues).
When faced with these signs and symptoms do not delay in attending to them, and consult a doctor immediately.
Schedule regular appointments with your doctor
These cardiac warning signs may occur anytime, so schedule and keep regular appointments with your doctor to monitor disease progression and the health of your heart. A regular appointment schedule can help spot potential issues before they escalate and can be life-saving.
Last updated: Jan. 8, 2020
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