A brief presentation on the lysosomal storage disease, Fabry's.

1. Camille Renee, C.D., and N.T.
Dr. Som S. Dasgupta
Saint James School of Medicine

2.  A middle aged man presents to you with
abdominal pain and ‘foamy’ urine. He
complains of diarrhea shortly after eating.
Upon examination, you find that the patient
has tiny painless reddish-blue papules around
his buttocks and groin area. Further
examination yields a whorl-type corneal
pattern of cream-coloured lines in both eyes.
What is the most likely diagnosis?

3.  Acute and chronic pain
 Fatigue/Weakness
 Heat and cold intolerance
 Hypohidrosis
 Kidney disease and Heart
problems
 Angiokeratomas
 Depression
 Change on cornea

6.  X-linked recessive lysosomal lipid storage
disease (mutation typically located on
Xq22.1)
 α-galactosidase deficiency from a genetic
mutation leads to an accumulation of
ceramide trihexoside (a glycosphingolipid) in
endothelial cells
 Organs commonly affected include the
kidney and heart, along with the
gastrointestinal tract
 Peripheral neuropathy is also common in
patients with Fabry’s disease

7.  α-galactosidase assay used to determine
deficiency and cardiac involvement
 Glycosphingolipids may be measured in
plasma or urine
 Female heterozygotes may need genetic
molecular analysis to confirm diagnosis

8.  Anti-convulsants i.e. gabapentin
 Pancreatic enzyme supplements
 Pacemakers and anti-arrhythmic drugs
 Galactose infusion stabilized condition using
nascent mutant enzyme
 Renal dialysis or transplantation
 Cardiac transplantation
 Recombinant human alpha-galactosidase has
been developed through research study, leading
to the licensure of agalsidase-a (Replaqal) and
agalsidase-b (Fabrazyme)

9.  It is possible to survive into adulthood but
patients with this condition are at increased
risk of stroke and renal failure
 Life expectancy is shortened in heterozygous
women with Fabry’s disease

10. 1. Warrell, D. A., Cox, T. M., Firth, J. D., J. E., R. J.,
Benz, M.D. (2003). Oxford textbook of medicine 4th
edition. Cambridge University: Oxford Press
2. Fabry Support & Information Group. (n.d).
Retrieved October 4, 2014, from
http://www.fabry.org/FSIG.nsf/Pages/Fabry
3. Kumar, V., Abbas, A.K., Fausto, N., with
illustrations by Perkins, J.A. (2005). Robbins and
Cotran pathologic basis of disease, 7th ed.
Pennsylvania: Elsevier Saunders Inc.
4. Feili, A.R. (2013). Medical Institution. Retrieved
from: http://www.medical-
institution.com/?attachment_id=2574
5. Siegenthaler, W. (2007). Differential diagnosis in
internal medicine: from symptom to diagnosis. New
York: Thieme Stuttgart