Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.
BACKGROUND
Fabry disease is a lysosomal storage disease resulting from deficient alpha-galactosidase A (alpha-Gal A) activity. End-stage renal disease generally occurs around the fourth decade of age, and dialysis therapy is a life-saving procedure. For patients with Fabry disease undergoing dialysis, death usually occurs from cardiac or cerebrovascular complications. Recently, enzyme replacement therapy was introduced for treatment of the disease.


METHODS
We report results of several clinical outcomes after 2 years of treatment with alpha-Gal A in patients with Fabry disease undergoing dialysis. Nine dialysis patients underwent a complete clinical, cardiac, and cerebrovascular evaluation at baseline and after 24 months of treatment. Two patients reported a recurrent pain crisis, and 6 patients reported gastrointestinal symptoms. In all patients, enzyme replacement therapy was undertaken because of the presence of Fabry cardiomyopathy. A complete echocardiographic study was performed in 6 patients 12 and 24 months before and 12 and 24 months during enzyme replacement therapy.


RESULTS
Enzyme replacement therapy was well tolerated. Pain crises disappeared completely after approximately 6 months of treatment, and patients with gastrointestinal involvement reported improvement in symptoms after 6 to 8 months. At baseline, all patients had left ventricular concentric hypertrophy. Enzyme replacement therapy did not affect heart rate or mean arterial pressure. The mean slope of left ventricular mass index progression decreased from 0.98 +/- 0.01 in the pretreatment period (24 months) to 0.46 +/- 0.960 in the enzyme-replacement-therapy period (P = 0.06).


CONCLUSIONS
Our observation indicates that in dialysis patients, enzyme replacement therapy is safe and effective, improving global quality of life and possibly ameliorating the progression of typical Fabry cardiomyopathy.
Pisani
Antonio
A
Chairs of Nephrology, Internal Medicine and Cardiology, and Pediatrics, University Federico II, Naples, USA.
Spinelli
Letizia
L
Sabbatini
Massimo
M
Andreucci
Maria Vittoria
MV
Procaccini
Deni
D
Abbaterusso
Cataldo
C
Pasquali
Sonia
S
Savoldi
Silvana
S
Comotti
Cristina
C
Cianciaruso
Bruno
B
D000328:Adult; D002318:Cardiovascular Diseases / Q000209:etiology / Q000517:prevention & control; D002561:Cerebrovascular Disorders / Q000209:etiology / Q000517:prevention & control; D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000201:enzymology / Q000473:pathology; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000517:prevention & control; D006439:Hemodynamics / Q000187:drug effects; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000209:etiology / Q000517:prevention & control; D011446:Prospective Studies; D011788:Quality of Life; D006435:Renal Dialysis; D013318:Stroke Volume; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D014463:Ultrasonography; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
D000519:alpha-Galactosidase