Anderson Fabry's Disease

Question 1

who gets it?

Answer 1

inborn error of glycosphingolipid metabolism (deficiency of galactosidase A)
x linked disease lysosomal storage disease
affects kidneys, liver, lungs, erythrocytes

Question 2

how does it present?

Answer 2

renal failure 
cutaneous - angiokeratomas 
cardiac - cardiomyopathy, valvular disease 
neurological - stroke, acroparaesthesia 
psychiatric

Question 3

how is it investigated?

Answer 3

plasma/leukocyte - alpha-GAL activity
renal biopsy: concentric lamellar inclusions within lysosomes
skin biopsy

Question 4

how is it treated?

Answer 4

enzyme replacement - fabryzyme

management of complications