TY - JOUR
T1 - Gaucher disease type 1
T2 - Revised recommendations on evaluations and monitoring for adult patients
AU - Weinreb, Neal J.
AU - Aggio, Mario C.
AU - Andersson, Hans C.
AU - Andria, Generoso
AU - Charrow, Joel
AU - Clarke, Joe T R
AU - Erikson, Anders
AU - Giraldo, Pilar
AU - Goldblatt, Jack
AU - Hollak, Carla
AU - Ida, Hiroyuki
AU - Kaplan, Paige
AU - Kolodny, Edwin H.
AU - Mistry, Pramod
AU - Pastores, Gregory M.
AU - Pires, Ricardo
AU - Prakesh-Cheng, Ainu
AU - Rosenbloom, Barry E.
AU - Scott, C. Ronald
AU - Sobreira, Elisa
AU - Tylki-Szymańska, Anna
AU - Vellodi, Ashok
AU - Vom Dahl, Stephan
AU - Wappner, Rebecca S.
AU - Zimran, Ari
N1 - Funding Information:
Supported in part by a grant from Genzyme Corporation, Cambridge, MA. The Gaucher Registry is sponsored by Genzyme Corporation.
PY - 2004/10
Y1 - 2004/10
N2 - 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.
AB - 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.
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U2 - 10.1053/j.seminhematol.2004.07.010
DO - 10.1053/j.seminhematol.2004.07.010
M3 - Article
C2 - 15468046
AN - SCOPUS:4744358540
SN - 0037-1963
VL - 41
SP - 15
EP - 22
JO - Seminars in Hematology
JF - Seminars in Hematology
IS - SUPPL. 5
ER -