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Special Article
September 14, 1998

Gaucher DiseaseRecommendations on Diagnosis, Evaluation, and Monitoring

Author Affiliations

From the Department of Pediatrics, Children's Memorial Hospital and Northwestern University Medical School, Chicago, Ill (Dr Charrow); the Department of Hematology, Kenneth Norris Cancer Center, University of Southern California, Los Angeles (Dr Esplin); the Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque (Dr Gribble); the Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia (Dr Kaplan); the Department of Neurology, New York University School of Medicine, New York (Drs Kolodny and Pastores); the Department of Pediatrics, University of Washington School of Medicine, Seattle (Dr Scott); the Departments of Pediatrics and Medical and Molecular Genetics, James Whitcomb Riley Hospital for Children and Indiana University, Indianapolis (Dr Wappner); the Department of Hematology, University Hospital, Tamarac, Fla (Dr Weinreb); and the Department of Hematology, Newton-Wellesley Hospital, Newton, Mass (Dr Wisch). Dr Gribble is deceased.

Arch Intern Med. 1998;158(16):1754-1760. doi:10.1001/archinte.158.16.1754
Abstract

Background  Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and visceral organ involvement can lead to abdominal pain and secondary hematologic and biochemical complications.

Objective  To seek clinical consensus for minimum recommendations for effective diagnosis and monitoring of patients with type I Gaucher disease.

Participants, 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 patients with Gaucher disease 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 β-glucocerebrosidase activity. Schedules differ for monitoring complications of type I Gaucher disease, 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 patients and every 3 months and at enzyme replacement therapy changes in treated patients. 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 patients, and every 12 months and at enzyme replacement therapy changes in treated patients.

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