Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

Genet Med. 2006 Sep;8(9):539-48. doi: 10.1097/01.gim.0000237866.70357.c6.


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.

Publication types

  • Review

MeSH terms

  • Adult
  • Child
  • Fabry Disease / complications
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Fabry Disease / therapy*
  • Female
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / therapy
  • Heart Diseases / etiology
  • Heart Diseases / therapy
  • Humans
  • Isoenzymes / therapeutic use
  • Kidney Diseases / etiology
  • Kidney Diseases / therapy
  • Lung Diseases / etiology
  • Lung Diseases / therapy
  • Male
  • Nervous System Diseases / etiology
  • Nervous System Diseases / therapy
  • Organ Specificity
  • Otorhinolaryngologic Diseases / etiology
  • Otorhinolaryngologic Diseases / therapy
  • Practice Guidelines as Topic
  • alpha-Galactosidase / therapeutic use


  • Isoenzymes
  • alpha-Galactosidase
  • agalsidase beta