Abstract

PALOMBO, M  and  ACHENBACH, RE. Fabry disease: Report of eight cases. Rev. argent. dermatol. [online]. 2011, vol.92, n.4, pp.18-45. ISSN 1851-300X.

Fabry disease (Online Mendelian Inheritance in Man No. 301500) is an X-linked inherited condition due to absence or reduction of ɑ galactosidase activity in lysosomes that results in accumulation of globotriaosylceramide and related neutral glycosphingolipids (storage disorder). It is estimated to occur in 1 in 40.000 to 117.000 live male births, although a more recent screening study in newborns suggests a much higher incidence. The main clinical traits include cutaneous lesions (angiokeratomas), progressive renal damage with proteinuria, painful neuropathy predominantly affecting the hands and feet (acroparesthesias), myocardial hypertrophy, gastrointestinal manifestations, corneal dystrophy and hypohidrosis. This entails severe progressive multi-system involvement leading to premature death. More than 600 mutations have been described worldwide most of which are private or particular mutations of a single family. We report a 28 years-old woman who consulted to one of us and since 2010 eight cases of the same family were studied and treated with support and enzyme replacement therapy in order to delay the damage to the end organ.

Keywords : Angiokeratomas; Enzyme replacement therapy; Eigth cases.