Rebound hepatosplenomegaly in type 1 Gaucher disease

Judit Tóth, M. Erdős, L. Máródi

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

A 19-yr-old male patient with type 1 Gaucher disease was put on regular biweekly infusions of alglucerase. After 1 yr of treatment, hepatic and splenic volumes decreased from 38 and 45 mL/kg to 31 and 34 mL/kg, respectively. In addition, hemoglobin concentration, platelet count and white cell count increased, acid phosphatase level decreased, and the patient gained weight and energy. Despite improvement, the patient refused enzyme replacement therapy (ERT) because of muscle rigidity, chest pain, trembling and anxiety, which he attributed to enzyme substitution. Two and 4.5 yr after cessation of therapy, hepatic and splenic volumes increased to 36 and 53 mL/kg and to 53 and 110 mL/kg, respectively. The patient developed non-tractable hematuria because of compression and dislocation of the left kidney by the enlarged spleen, which necessitated splenectomy. This report suggests that cessation of ERT in Gaucher disease may result in severe and complicated rebound visceromegaly.

Original languageEnglish
Pages (from-to)125-128
Number of pages4
JournalEuropean Journal of Haematology
Volume70
Issue number2
DOIs
Publication statusPublished - Feb 1 2003

Fingerprint

Gaucher Disease
Enzyme Replacement Therapy
Muscle Rigidity
Liver
Splenomegaly
Hematuria
Splenectomy
Acid Phosphatase
Chest Pain
Platelet Count
Hemoglobins
Anxiety
Cell Count
Kidney
Weights and Measures
Enzymes
Therapeutics

Keywords

  • Enzyme replacement
  • Gaucher disease
  • Hepatosplenomegaly

ASJC Scopus subject areas

  • Hematology

Cite this

Rebound hepatosplenomegaly in type 1 Gaucher disease. / Tóth, Judit; Erdős, M.; Máródi, L.

In: European Journal of Haematology, Vol. 70, No. 2, 01.02.2003, p. 125-128.

Research output: Contribution to journalArticle

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