O coração e a doença de Fabry-Anderson

Autores

  • Paulo Reis Pina Médico do Internato Complementar de Medicina Interna Serviço de Medicina II do Hospital de Egas Moniz, Lisboa, Lisboa

Palavras-chave:

Fabry, Anderson, lisossomas, armazenamento, alfa-galactosidase A, angioqueratomas, acroparestesias, variante cardíaca, enzima de substituição

Resumo

A doença de Fabry-Anderson é uma doença progressiva, de natureza recessiva ligada
ao cromossoma X. Faz parte do grupo das
41 doenças genéticas de armazenamento lisossómico.
É causada por uma deficiência de alfa-galactosidase A, o que conduz a uma acumulação de
glico-esfingolípidos em vários tecidos e fluidos
corporais. Tal facto implica uma série de manifestações clínicas.
A doença de Fabry-Anderson é caracterizada
por acroparestesias, angioqueratomas cutâneos, hipoidrose, opacidades da córnea, insuficiência renal, e alterações nos sistemas nervoso central, cardiovascular e gastro-intestinal.
O depósito de glico-esfingolípidos a nível das células cardíacas leva a várias alterações, que
explicam diversos sintomas, cuja expressão depende do sexo e da idade.
Alguns indivíduos desenvolvem uma variante
da doença com expressão cardíaca. Cerca de 3 a 6% de homens assintomáticos, com hipertrofia ventricular esquerda, têm esta variante da doença. A presença de hipertrofia ventricular
esquerda pode servir como marcador de gravidade da doença.
Estima-se que 4 a 8% de pacientes com uma cardiomiopatia hipertrófica não obstrutiva,
considerada idiopática, têm a doença de Fabry-Anderson. Esta doença deverá ser considerada e
deverá ser investigada por bioquímica ou biopsia endomiocárdica, no esclarecimento de uma
cardiomiopatia sem etiologia identificada.
A doença de Fabry-Anderson tem uma elevada morbilidade. A morte ocorre precocemente (pela
quarta ou quinta décadas de vida) devido a doença vascular renal, cardíaca ou cerebral.

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Publicado

31-12-2003

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1.
Reis Pina P. O coração e a doença de Fabry-Anderson. RPMI [Internet]. 31 de Dezembro de 2003 [citado 28 de Fevereiro de 2024];10(4):209-14. Disponível em: https://revista.spmi.pt/index.php/rpmi/article/view/1833

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