Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Males with classical Fabry disease develop early symptoms including pain and hypohidrosis by the second decade of life reflecting disease progression in the peripheral and autonomic nervous systems. An insidious cascade of disease processes ultimately results in severe renal, cardiac, and central nervous system complications in adulthood. The late complications are the main cause of late morbidity, as well as premature mortality. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic. The recent introduction of enzyme replacement therapy to address the underlying pathophysiology of Fabry disease has focused attention on the need for comprehensive, multidisciplinary evaluation and management of the multi-organ system involvement. In anticipation of evidence-based recommendations, an international panel of physicians with expertise in Fabry disease has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies, including enzyme replacement and other adjunctive therapies, to optimize patient outcomes.
Eng
Christine M
CM
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Germain
Dominique P
DP
Banikazemi
Maryam
M
Warnock
David G
DG
Wanner
Christoph
C
Hopkin
Robert J
RJ
Bultas
Jan
J
Lee
Philip
P
Sims
Katherine
K
Brodie
Scott E
SE
Pastores
Gregory M
GM
Strotmann
Joerg M
JM
Wilcox
William R
WR
D000328:Adult; D002648:Child; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000628:therapy; D006331:Heart Diseases / Q000209:etiology / Q000628:therapy; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D007674:Kidney Diseases / Q000209:etiology / Q000628:therapy; D008171:Lung Diseases / Q000209:etiology / Q000628:therapy; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology / Q000628:therapy; D009928:Organ Specificity; D010038:Otorhinolaryngologic Diseases / Q000209:etiology / Q000628:therapy; D017410:Practice Guidelines as Topic; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta