Gaucher Disease

Overview

To diagnose Gaucher disease, your healthcare provider will examine you and ask about your symptoms. Providers diagnose Gaucher disease using a blood test that checks for enzyme levels or a DNA test to see if the gene mutations causing Gaucher disease are present.

To determine if you’re a carrier for Gaucher disease, your provider will perform a DNA test using your saliva or blood. Gaucher disease carriers don’t have any symptoms, but they can pass the disease to their children. If you’re a carrier and considering having children, your provider will refer you to a genetic counselor so you can decide on a plan for your family.

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Symptoms

When to see a doctor

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Complications

Blood clots are a dangerous complication of atrial fibrillation (AFib). Blood clots can lead to stroke.

The risk of stroke from AFib increases as you grow older. Other health conditions also may increase the risk of a stroke due to AFib. These conditions include:

High blood pressure.
Diabetes.
Heart failure.
Some types of heart valve disease.

Blood thinners are commonly prescribed to prevent blood clots and strokes in people with atrial fibrillation.

Prevention

Healthy lifestyle choices can reduce the risk of heart disease and may prevent atrial fibrillation (AFib). Here are some basic heart-healthy tips:

Control high blood pressure, high cholesterol and diabetes.
Don't smoke or use tobacco.
Eat a diet that's low in salt and saturated fat.
Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
Get good sleep. Adults should aim for 7 to 9 hours daily.
Maintain a healthy weight.
Reduce and manage stress.

By Mayo Clinic Staff

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Diagnosis & treatment

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