Morbus Fabry - Komplexe Klinik, einfache Diagnostik, kausale Therapie

Morbus Fabry is a hereditary metabolic disease from the group of lysosomal storage diseases. The cause is a deficiency of the enzyme alpha-galactosidase A, as a result of which metabolic products accumulate in almost all body cells and organs are increasingly damaged.

Typical symptoms:
As early as childhood, skin changes (angiokeratomas), pain in the hands and feet, clouding of the cornea, proteinuria and gastrointestinal complaints occur.

Later heart, kidney and nerve damage (e.g. strokes) follow. e.g. strokes). Without treatment, the life expectancy is around 55 years (men) or 70 years (women).

Since 2001, enzyme replacement therapy (ERT) has been available as a causal treatment. early diagnosis and start of treatment are crucial for a good prognosis - yet on average 13 years pass between the first symptoms and diagnosis.

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Book reference:
Gerald Uhlig-Romero - "Mein grösster Feind ist in mir"
The author describes his decades-long search for a diagnosis of Fabry disease and his journey with the illness - an impressive account of suffering, perseverance and the fight for recognition of rare diseases.