Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
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 beta-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.
Weinreb
Neal J
NJ
University Research Foundation for Lysosomal Storage Diseases, Department of Medicine, University Hospital, Tamarac, FL, USA.
Aggio
Mario C
MC
Andersson
Hans C
HC
Andria
Generoso
G
Charrow
Joel
J
Clarke
Joe T R
JT
Erikson
Anders
A
Giraldo
Pilar
P
Goldblatt
Jack
J
Hollak
Carla
C
Ida
Hiroyuki
H
Kaplan
Paige
P
Kolodny
Edwin H
EH
Mistry
Pramod
P
Pastores
Gregory M
GM
Pires
Ricardo
R
Prakash-Cheng
Ainu
A
Prakesh-Cheng
Ainu
A
Rosenbloom
Barry E
BE
Scott
C Ronald
CR
Sobreira
Elisa
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Tylki-Szymańska
Anna
A
Vellodi
Ashok
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vom Dahl
Stephan
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Wappner
Rebecca S
RS
Zimran
Ari
A
D000328:Adult; D015415:Biomarkers; D020732:Cytogenetic Analysis; D003952:Diagnostic Imaging; D005776:Gaucher Disease / Q000175:diagnosis*; D006403:Hematologic Tests; D006801:Humans; D012042:Registries
D015415:Biomarkers