Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease

M. G. Marazzi, S. Giardino, C. Dufour, M. Serafino, D. Sperlì, R. Giacchino

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of <20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened after 22 months. This case emphasizes the importance of recognizing atypical clinical presentation of Wilson disease, which must always be considered in patients with Coombs-negative haemolytic anaemia. The good clinical response to treatment with zinc acetate monotherapy in our case might lend to consider the use of zinc monotherapy as initial therapy also in symptomatic patients with Wilson disease under close clinical observation. Clinical trials are needed to provide evidence for use of zinc monotherapy as first-line therapy in symptomatic patients with Wilson disease.

Original languageEnglish
Pages (from-to)96-99
Number of pages4
JournalPediatria Medica e Chirurgica
Volume34
Issue number2
Publication statusPublished - 2012

ASJC Scopus subject areas

  • Medicine(all)

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