Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.

[fabry disease]

Fabry 's is a progressive , destructive and life threatening disease which reduces significantly life expectancy of the affected individual . It is a genetic disorder of X-linked inheritance caused by deficiency of lysosomal enzyme alpha-galactosidase A resulting in progressive accumulation of glycosphingolipids within different body cells . Fabry 's deposits are defined histopathologically as lamellate membrane like structure called myeloid or Zebra bodies . Clinical manifestations of disease are hypohidrosis , acroparesthesias , heat intolerance , angiokeratomas , corneal opacities , cardiac arrhythmias , left ventricular hypertrophy , proteinuria , renal insufficiency and cerebrovascular accidents . Diagnosis of Fabry 's need a high clinical suspicion , good physical examination , organ specific tests and is confirmed by demonstrating low enzyme assays in homozygous males and gene typing in heterozygous females . Specific therapy for Fabry 's disease is enzyme replacement with recombinant human alpha-galactosidase A . If started early it has a promising role in renal and cardiac disease however beneficial role is not yet defined in CNS involvement .

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Diseases presenting "specific tests" symptom

fabry disease

kabuki syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

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