XXXX : recommendations on diagnosis, evaluation, and monitoring.

@entity1 @entity1120 @entity490
BACKGROUND: Timely diagnosis and continued monitoring of @entity1 with @entity1120 is critical because skeletal involvement can permanently disable @entity1 and visceral organ involvement can lead to @entity490 and secondary hematologic and biochemical complications. OBJECTIVE: To seek clinical consensus for minimum recommendations for effective diagnosis and monitoring of @entity1 with @entity1120 . @entity1 , EVIDENCE, AND CONSENSUS PROCESS: Contributing authors collaborated in quarterly meetings over a 2-year period to synthesize recommendations from peer-reviewed publications and their own medical experiences. These physicians care for most @entity1 with @entity1120 in the United States and serve as the US Regional Coordinators for the International Collaborative Gaucher Group Registry, the world's largest database for this disorder. CONCLUSIONS: The definitive method of diagnosis is enzyme assay of beta-glucocerebrosidase activity. Schedules differ for monitoring complications of @entity1120 , depending on symptoms and whether enzyme replacement therapy is used. Hematologic and biochemical involvement should be assessed by complete blood cell count, including platelets, acid phosphatase, and liver enzymes, at baseline and every 12 months in untreated @entity1 and every 3 months and at enzyme replacement therapy changes in treated @entity1 . Visceral involvement should be assessed at diagnosis using magnetic resonance imaging or computed tomographic scans. Skeletal involvement should be assessed at diagnosis using T1- and T2-weighted magnetic resonance imaging of the entire femora and plain radiography of the femora, spine, and symptomatic sites. Follow-up skeletal and visceral assessments are recommended every 12 to 24 months in untreated @entity1 , and every 12 months and at enzyme replacement therapy changes in treated @entity1 .
