GAUCHER-DISEASE - RECOMMENDATIONS ON DIAGNOSIS, EVALUATION, AND MONITORING

Background: Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can p ermanently disable patients and visceral organ involvement can lead to abdominal pain and secondary hematologic and biochemical complication s. Objective: To seek clinical consensus for minimum recommendations f or effective diagnosis and monitoring of patients with type I Gaucher disease. Participants, Evidence, and Consensus Process: Contributing a uthors collaborated in quarterly meetings over a 2-year period to synt hesize recommendations from peer-reviewed publications and their own m edical experiences. These physicians care for most patients with Gauch er disease in the United States and serve as the US Regional Coordinat ors for the International Collaborative Gaucher Group Registry, the wo rld's largest database for this disorder. Conclusions: The definitive method of diagnosis is enzyme assay of beta-glucocerebrosidase activit y. Schedules differ for monitoring complications of type I Gaucher dis ease, depending on symptoms and whether enzyme replacement therapy is used. Hematologic and biochemical involvement should be assessed by co mplete blood cell count, including platelets, acid phosphatase, and li ver enzymes, at baseline and every 12 months in untreated patients and every 3 months and at enzyme replacement therapy changes in treated p atients. Visceral involvement should be assessed at diagnosis using ma gnetic resonance imaging or computed tomographic scans. Skeletal invol vement should be assessed at diagnosis using T-1- and T-2-weighted mag netic resonance imaging of the entire femora and plain radiography of the femora, spine, and symptomatic sites, Follow-up skeletal and visce ral assessments are recommended every 12 to 24 months in untreated pat ients, and every 12 months and at enzyme replacement therapy changes i n treated patients.