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Revised recommendations for the management of Gaucher disease in children

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Abstract

Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and manifest growth retardation, delayed puberty, early-onset osteopenia, significant splenomegaly, hepatomegaly, thrombocytopenia, anemia, severe bone pain, acute bone crises, and fractures. Symptomatic children with types 1 or 3 should receive enzyme replacement therapy, which will prevent debilitating and often irreversible disease progression and allow those with non-neuropathic disease to lead normal healthy lives. Children should be monitored every 6 months (physical exam including growth, spleen and liver volume, neurologic exam, hematologic indices) and have one to two yearly skeletal assessments (bone density and imaging, preferably with magnetic resonance, of lumbar vertebrae and lower limbs), with specialized cardiovascular monitoring for some type 3 patients. Response to treatment will determine the frequency of monitoring and optimal dose of enzyme replacement. Treatment of children with type 2 (most severe) neuropathic Gaucher disease is supportive. Pre-symptomatic children, usually with type 1 Gaucher, increasingly are being detected because of affected siblings and screening in high-prevalence communities. In this group, annual examinations (including bone density) are recommended. However, monitoring of asymptomatic children with affected siblings should be guided by the age and severity of manifestations in the first affected sibling. Treatment is necessary only if signs and symptoms develop. Conclusion: Early detection and treatment of symptomatic types 1 and 3 Gaucher disease with regular monitoring will optimize outcome. Pre-symptomatic children require regular monitoring. Genetic counseling is important.

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Acknowledgments

The meeting to formulate these recommendations was funded by an unrestricted grant from the Genzyme Corporation. Genzyme also provided medical writing support from Frans van Huizen, Ph.D. and Lisa Underhill, MS, of Genzyme Global Medical Affairs. Genzyme had no formative role in developing these management guidelines or in the decision to submit the manuscript for publication. All views expressed and treatment recommendations are solely those of the authors.

Conflict of interest disclosures

Paige Kaplan has received grants and honoraria from Genzyme. Hagit N. Baris has received grants and honoraria from Genzyme. Linda De Merlier has received honoraria from Genzyme. Maja Di Rocco has received honoraria from Genzyme and Actelion. Amal El Beshlawy has recieved honoraria from Genzyme. Martina Huemer has received speaker honoraria from Genzyme. Ana Maria Martins has received support to attend congress and honoraria as a consultant from Genzyme. Ioana Nascu has received honoraria from Genzyme. M. Rohrbach has received unrestricted grants and/or honoraria from Actelion, Genzyme, and Shire. Lynne Steinbach has received honoraria from Genzyme. Ian J. Cohen has received a grant and honoraria from Genzyme.

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Authors and Affiliations

  1. Children’s Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA, 19104, USA

    Paige Kaplan

  2. Beilinson-Schneider Gaucher Clinic, Rabin Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Hagit Baris

  3. Pediatric Neurology, UZ Brussels, Brussels, Belgium

    Linda De Meirleir

  4. Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genoa, Italy

    Maja Di Rocco

  5. Department of Pediatrics, Cairo University School of Medicine, Cairo, Egypt

    Amal El-Beshlawy

  6. Department of Pediatrics, LKH Bregenz, Bregenz, Austria

    Martina Huemer

  7. Center of Reference in Inborn Errors of Metabolism, Universidade Federal de Sao Paulo, Sao Paulo, Brazil

    Ana Maria Martins

  8. Center of Genetic Diseases, Children’s Hospital Emergency Cluj, Cluj, Romania

    Ioana Nascu

  9. Division of Metabolism, Connective Tissue Unit, University Children’s Hospital, Zurich, Switzerland

    Marianne Rohrbach

  10. Department of Radiology, University of California, San Francisco, CA, USA

    Lynne Steinbach

  11. Beilinson-Schneider Gaucher Clinic, Department of Pediatric Hematology Oncology, Schneider Children’s Medical Center of Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Ian J. Cohen

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  1. Paige Kaplan
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Correspondence to Paige Kaplan.

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Kaplan, P., Baris, H., De Meirleir, L. et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 172, 447–458 (2013). https://doi.org/10.1007/s00431-012-1771-z

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