Newly Diagnosed: Taking the First Step on Your Journey

Fabry disease is a rare genetic disorder that prevents the body from making an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a type of fat called globotriaosylceramide into building blocks that cells can use. Learn more about Fabry disease by clicking the link below.

The two main types of Fabry disease are type 1, or classic Fabry disease, and type 2, or late-onset Fabry disease. Patients with the classic type have little to no functional alpha-galactosidase A enzyme. Patients with late-onset Fabry have some residual alpha-galactosidase A enzyme activity and so there is a slower accumulation of lipid wastes inside their cells. Learn more by clicking the link below.

Fabry disease is caused by mutations in the GLA gene, which contains the necessary information to make the alpha-galactosidase A enzyme. As a result of this enzyme deficiency, the fat molecule globotriaosylceramide builds up inside cells, leading to organ damage.

Symptoms of Fabry disease vary depending on disease type and sex. Men with type 1 Fabry develop symptoms at an early age, while the severity of symptoms in women is highly variable. Click the link below to learn more about the symptoms of Fabry.

Different testing methods can be used to diagnose Fabry disease, the most definitive of which is a genetic test looking for the mutant GLA gene. A full DNA sequence analysis can be used to diagnose both men and women who have symptoms, and even women who do not show any symptoms but carry the faulty gene.

Fabry disease typically appears in childhood and is progressive, which means it worsens over time. Living with Fabry can be stressful and wear down patients’ physical and mental health. However, people with the disorder can live full and productive lives if their symptoms are managed. Learn more about living with Fabry disease by clicking the link below.