The Gaucher Registry is the largest database of patients with Gaucher disease (GD). Physicians worldwide who care for GD patients were invited to submit clinical data on patients. Using standardized forms, data are submitted for central processing. This report describes the bone symptoms and disease in the absence of significant hématologie abnormalities among patients in the Registry. Results: 182 patients receiving enzyme replacement therapy (ERT) and having an intact spleen also reported a history of bone symptoms and disease. Among this patient cohort, all reported the absence of significant hématologie abnormalities at baseline (hemoglobin 12 g/dL and platelets 120,000/ul). Mean (SD) current age of these patients is 36.9 years (20.4), with a mean (SD) age at first ERT infusion of 31.3 years (20.1). Among the 174 patients who reported age at diagnosis, the mean (SD) age at diagnosis was 22.9 years (18.9). Genotype frequency data is available from 75% of this cohort with the top three genotypes as follows: N370S/N370S (37%), N370S/? (19%), and N370S/L444P (18%). Ninety-four of the 182 patients (52%) reported having at least one severe radiologie manifestation of bone disease including infarction (17%), avascular necrosis (16%), fracture (11%), lytic lesions (3%), and joint replacement (2%). Patients may report more than one manifestation. Among patients reporting bone symptoms, 74% reported a history of bone pain and 38% reported a history of bone crises. Conclusions: Analyses of Registry data provide important evidence that disease severity cannot be defined by any one parameter. Patients may have a history of bone disease in the absence of significant hématologie abnormalities and vice versa. Because bone disease is under-recognized in the Gaucher population and untreated bone disease may lead to irreversible disability, current recommendations for monitoring suggest objective assessments of each area of potential bone involvement, often requiring the employment of several different modalities (X-ray, MRI, CT, etc.).
|Original language||English (US)|
|Issue number||11 PART I|
|State||Published - Dec 1 2000|
ASJC Scopus subject areas