Wilson's disease with concomitant β thalassaemia and factor V deficiency

E. Giannini, A. Fasoli, F. Botta, R. Testa

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Abstract

A case of late presentation of Wilson's disease in a female with a thalassaemic trait is reported in whom diagnosis of Factor V deficiency was made. Despite ignoring the disease for years the patient had compensated cirrhosis. She had a dramatic family history of Wilson's disease affecting at least two brothers and and sisters. Moreover, her haematologic problems were not clinically revealed until diagnosis had been made on the basis of suspicions arising from laboratory results. The therapy of choice for hepatolenticular degeneration was not feasible due to the patient's refusal. Zinc salts were, therefore, administered. To our knowledge the association of such rare genetic disorders has not been reported.

Original languageEnglish
Pages (from-to)633-635
Number of pages3
JournalItalian Journal of Gastroenterology and Hepatology
Volume30
Issue number6
Publication statusPublished - 1998

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Keywords

  • β thalassaemia
  • Factor V deficiency
  • Wilson's disease
  • Zinc therapy

ASJC Scopus subject areas

  • Gastroenterology

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