FABRY DISEASE (ANGIOKERATOMA CORPORIS DIFFUSUM UNIVERSALE)

Question 1

What is the defect in Farbry Syndrome?

Answer 1

glycosphingolipid metabolism involving a lysosomal enzyme, α-galactosidase A (also known as ceramide trihexosidase)

Question 2

What is the mutation in Fabry Syndrome?

Answer 2

GLA GENE

Question 3

What is the major renal site of glycosphyngolipid accumulation in Fabry Disease?

Answer 3

PODOCYTE

Question 4

What is the major EM finding within the cytoplasm of the podocytes in Fabry disease?

Answer 4

MYELIN FIGURES or ZEBRA BODIES

Question 5

What blood groups have earlier and more severe symptoms in Fabry disease?

Answer 5

Blood type B and AB

Question 6

The diagnosis (in males) of Fabry disease can be established by?

Answer 6

• α-galactosidase-A (serum)
• followed by mutation analysis

Question 7

What is the treatment for Fabry disease?

Answer 7

1. ALGALSIDASE ALPHA
2. ALGALSIDASE BETA

Question 8

Treatment of FD was based on which 2 factors?

Answer 8

1. GENDER
2. PRESENCE OF CLASSICAL OR NONCLASSICAL DISEASE MANIFESTATIONS

Question 9

The division of females into classical and nonclassical FD is based on the presence or absence of what 3 factors?

Answer 9

1. clustered angiokeratoma
2. cornea verticillata
3. very high (lyso)Gb3 level

Question 10

The diagnosis of classical FD in male patients is based on?

Answer 10

1. GLA mutation
2. absent or very low residual enzyme activity
3. presence of at least one of the following:
   • angiokeratoma
   • cornea verticillata
   • very high (lyso)Gb3 level