Chitotriosidase and Gaucher disease severity and progression

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

van Dussen et al. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis. 2014 May 16. [Epub ahead of print]

In a retrospective analysis of 80 patients with non-neuronopathic (type I) Gaucher disease, representing the majority of the cohort of such patients at the Academic Medical Centre in Amsterdam, van Dussen et al evaluate the usefulness of plasma chitotriosidase activity as a marker of response to enzyme replacement therapy and as a predictor of long-term complications/associated diseases (such as Parkinson disease, amyloidosis, pulmonary hypertension, persistent bone disease, hepatocellular carcinoma, and multiple myeloma). They confirm that, prior to the initiation of treatment, plasma chitotriosidase levels are significantly correlated with spleen and liver volumes, as well as hematological parametres and the extent of bone marrow infiltration. Likewise, the reduction of chitotriosidase levels with ERT correlate with the decrease of all of these parametres except for changes of the bone marrow fat fraction. Finally, the occurrence of late complications/associated conditions correlate with pre-treatment and residual chitotriosidase levels.

The authors caution, however, that despite the observed overall correlations, plasma chitotriosidase does not necessarily reflect or predict the clinical status of individual patients (i.e. levels sometimes rose without a clinical deterioration; clinical deterioration could sometimes be observed without an increase of chitotriosidase levels). Likewise, the small number of patients did not allow them to assess the correlation between chitotriosidase levels and each of the long-term complications/associated conditions individually. Nevertheless, the study confirms that plasma chitotriosidase levels are a useful tool in the follow-up of patients with non-neuronopathic Gaucher disease.

Posted by Alina Levtova, MD


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