Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Neal J. Weinreb, Mario C. Aggio, Hans C. Andersson, Generoso Andria, Joel Charrow, Joe T R Clarke, Anders Erikson, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, Paige Kaplan, Edwin H. Kolodny, Pramod Mistry, Gregory M. Pastores, Ricardo Pires, Ainu Prakesh-Cheng, Barry E. Rosenbloom, C. Ronald Scott, Elisa SobreiraAnna Tylki-Szymańska, Ashok Vellodi, Stephan Vom Dahl, Rebecca S. Wappner, Ari Zimran

Research output: Contribution to journalArticlepeer-review

129 Scopus citations

Abstract

For patients with type 1 Gaucher disease, challenges to patient care posed by clinical heterogeneity, variable progression rates, and potential permanent disability that can result from untreated or suboptimally treated hematologic, skeletal, and visceral organ involvement dictate a need for comprehensive, serial monitoring. An updated consensus on minimum recommendations for effective monitoring of all adult patients with type 1 Gaucher disease has been developed by the International Collaborative Gaucher Group (ICGG) Registry coordinators. These recommendations provide a schedule for comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects of this disease. The initial assessment should include confirmation of deficiency of β-glucocerebrosidase, genotyping, and a complete family medical history. Other assessments to be performed initially and at regular intervals include a complete physical examination, patient-reported quality of life using the SF-36 survey, and assessment of hematologic (hemoglobin and platelet count), visceral, and skeletal involvement, and biomarkers. Specific radiologic imaging techniques are recommended for evaluating visceral and skeletal pathology. All patients should undergo comprehensive regular assessment, the frequency of which depends on treatment status and whether therapeutic goals have been achieved. Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication.

Original languageEnglish (US)
Pages (from-to)15-22
Number of pages8
JournalSeminars in Hematology
Volume41
Issue numberSUPPL. 5
DOIs
StatePublished - Oct 2004

ASJC Scopus subject areas

  • Hematology

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