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Fabry Throughout Life

Fabry disease causes a variety of symptoms, many of which may be mistaken for those of other diseases. Therefore, diagnosis can be very challenging and may be delayed for years or even decades. Yet early diagnosis is important.

The following section describes common signs and symptoms of Fabry disease at different stages of life. If you or a family member are experiencing these symptoms and a cause has not been determined, be sure to discuss them with your doctor.

Fabry disease in children

Although GL-3 may begin accumulating even before birth, signs and symptoms of accumulation may not be evident until early to late childhood. Even then, these symptoms may be attributed to other diseases. Being aware of the types of symptoms children may experience can help lead to early recognition of the disease.

The chart below lists some common signs and symptoms of Fabry disease in children.

Fabry disease in adolescents

Teenagers may experience additional signs and symptoms. Gastrointestinal problems, skin rash, and fatigue tend to become more common in adolescence.

Fabry disease in adults

By the time a Fabry patient has reached adulthood, significant buildup of GL-3 in the cells may have occurred, and new signs and symptoms related to organ damage may appear.

The figure below highlights many of the signs and symptoms that adults with Fabry may experience.

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Fabry Registry

First Symptoms to Diagnosis

Data from the Fabry Registry confirms the large gap between the average age of symptoms onset (10.5) and diagnosis of Fabry disease (28.5). To learn more about the importance of the Fabry Registry click here.

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