Metabolics = Lysosomal Storage Diseases (TRANSFERRED)

Question 1

Reference: Genetics residents in-training examination – Fall 2020

A. Name 5 organ systems that are affected in Fabry disease and describe a symptom/clinical finding for each system.

B. List three laboratory tests used to establish the diagnosis of Fabry disease.

C. List three medical treatments (disease-specific or not) that may be used in Fabry disease

Answer 1

A.
CNS – stroke/TIA, white matter lesions
Ophtho – corneal verticillata/opacities, “Fabry cataract”
Cardiac – LVH or HCM (these are the major issues, but other findings can be seen)
GI – abdominal pain, bloating, diarrhea
Skin – angiokeratomas
PNS – acral parasthesias, hypohidrosis/heat intolerance
Renal – proteinuria (eventual ESRD possible)

B.
Alpha-galactosidase activity
Plasma GB2 and GB3
Urine lyso-GB3 levels
Molecular genetic testing (GLA sequencing)

C.
Enzyme replacement therapy (Replagal and Fabrazyme are the trade names)
Chaperone therapy (Galafold)
Gabapentin (or others) for pain
ACE-I or ARB to reduce proteinuria and prevent further damage
ASA or antiplatelet agents for stroke prevention