"Fabry disease: Treatment and diagnosis"

ROZENFELD PA

IUBMB LIFE

Wiley Interscience

Lugar: Boston; Año: 2009 vol. 61 p. 1043 - 1050

1521-6543

Fabry disease is an X-linked lysosomal disorder that resultsfrom a deficiency of the lysosomal enzyme a-galactosidase Aleading to accumulation of glycolipids, mainly globotriaosylceramidein the cells from different tissues. Classical Fabry diseaseaffects various organs. Clinical manifestations start at early ageand include angiokeratoma, acroparesthesia, hypohydrosis,heat/exercise intolerance, gastrointestinal pain, diarrhea, andfever. The main complications of Fabry disease are more prominentafter the age of 30 when kidney, heart, and/or cerebrovasculardisorders appear. Most of the heterozygous females aresymptomatic. Enzyme replacement therapy (ERT) is the onlyspecific treatment for Fabry disease. The beneficial effect ofERT on different organs/systems has been extensively evaluated.Quality of life of patients receiving ERT is improved.Enzyme replacement stabilizes or slows the decline in renalfunction and reduces left ventricular hypertrophy. Fabry diseasemay be underdiagnosed because of nonspecific and multiorgansymptoms. Different screening strategies have been carriedout in different at-risk populations in order to detectundiagnosed Fabry patients. An increasing knowledge aboutFabry disease within the medical community increases thechances of patients to receive a timely diagnosis and, consequently,to access the appropriate therapy.