FABRY’S DISEASE

Camille Renee, C.D., and N.T.

Dr. Som S. Dasgupta

Saint James School of Medicine

CASE STUDY 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?

SIGNS AND SYMPTOMS Acute and chronic pain Fatigue/Weakness Heat and cold intolerance Hypohidrosis Kidney disease and Heart

problems Angiokeratomas Depression Change on cornea

WHORL-LIKE INCLUSIONS

LYSOSOMAL STORAGE DISEASES

FABRY’S DISEASE: PATHOPHYSIOLOGY 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

DIAGNOSTIC TESTS 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

TREATMENT 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)

PROGNOSIS 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

REFERENCES1. 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