Morbus Fabry is a rare, hereditary metabolic disease. It is caused by a deficiency or absence of the enzyme alpha-galactosidase A. As a result, the fatty substance globotriaosylceramide (Gb3) accumulates in the cells. Over time, these deposits damage various organs and can cause severe pain, kidney failure or strokes.
Since Fabry disease affects several organ systems simultaneously - especially nerves, kidneys, heart and blood vessels - diagnosis is often difficult. The symptoms are varied and the disease is rare. Without treatment, both quality of life and life expectancy are significantly reduced.
In Switzerland, it is estimated that around 150 people carry the Fabry gene. Around 75 patients are currently being successfully treated as part of home therapy. Other patients receive outpatient or inpatient treatment in doctors' surgeries or hospitals.