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