Take the quiz
Question 1
Which organs are commonly affected by Fabry disease?
Question 2
What are symptoms of Fabry disease?
Question 3
Which parameters should be particularly monitored in Fabry disease with renal symptoms?
Question 4
Which substrate accumulates in Fabry disease?
Skin, liver and nervous system
Liver, splean and eyes
Heart, kidneys and nervous system
The gastrointestinal tract,
Lungs and Skin
Lungs and Skin
Correct!
The heart, kidneys and nervous system are the organs most commonly affected by Fabry disease.
Other frequently affected organs are the skin, eyes and gastrointestinal tract.
Incorrect!
The heart, kidneys and nervous system are the organs most commonly affected by Fabry disease.
Other frequently affected organs are the skin, eyes and gastrointestinal tract.
Next Question
Renal insufficiency,
Proteinuria, Glomerular hyperfiltration
Proteinuria, Glomerular hyperfiltration
Thrombocytopenia,
Anemia, leukopenia
Anemia, leukopenia
Splenomegaly,
Hepatomegaly, Thrombocytopenia
Hepatomegaly, Thrombocytopenia
Proximal muscle weakness,
Scoliosis, Orthopnea
Scoliosis, Orthopnea
Correct!
In Fabry disease patients with nephrological involvement, the accumulation of the substrate leads to progressive renal insufficiency, proteinuria, and glomerular hyperfiltration (early marker).
Incorrect!
In Fabry disease patients with nephrological involvement, the accumulation of the substrate leads to progressive renal insufficiency, proteinuria, and glomerular hyperfiltration (early marker).
Next Question
Platelet count
Albumin levels
Blood sugar levels
Hemoglobin levels
Correct!
Chronic kidney disease is associated with decreasing albumin levels in the blood, which leads to proteinuria and a decrease in GFR. If left untreated, it eventually progresses to end-stage renal disease (ESRD). Therefore, reducing albuminuria to < 300 mg/g (< 30 mg/mmol) should be the therapeutic goal.
Incorrect!
Chronic kidney disease is associated with decreasing albumin levels in the blood, which leads to proteinuria and a decrease in GFR. If left untreated, it eventually progresses to end-stage renal disease (ESRD). Therefore, reducing albuminuria to < 300 mg/g (< 30 mg/mmol) should be the therapeutic goal.
Next Question
GL-1
Uric acid
Glucose
GL-3
Correct!
GL-3 accumulates in Fabry disease patients because the enzyme α-galactosidase shows no or only reduced activity. GL-3 can also be used as a biomarker in diagnostics.
Incorrect!
GL-3 accumulates in Fabry disease patients because the enzyme α-galactosidase shows no or only reduced activity. GL-3 can also be used as a biomarker in diagnostics.
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You are now very close to becoming a Fabry disease expert.
You can find more information about Fabry disease, diagnosis and therapy here:
MAT-BE-2501047-v10.-102025