Abstract
Gaucher disease (GD) is the most common hereditary lysosomal storage disorder. Of the three variants of GD, type 1 accounts for 90% of cases. Patients with GD suffer from multiple medical symptoms and conditions. Clinical features of type 1 GD include hepatosplenomegaly; hematologic complications such as anemia and thrombocytopenia; and skeletal disease leading to avascular necrosis, osteopenia, and osteosclerosis. GD has unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood. The treatment, enzyme replacement therapy (ERT), is efficacious. However, that same effective treatment is intrusive, expensive, and requires that patients restructure their work and personal schedules. Since the age of presentation can be anywhere between infancy and the eighth decade, the diagnostic process can be prolonged and stressful. The success of ERT notwithstanding, GD patients show distinct psychological complications [Packman et al. (2006); J Inherit Metab Dis 29:99-105]. In the present study, we describe the concerns, needs, challenges and positive effects of GD from the patients' perspective using in depth interviews of 28 individual affected by GD. Fi...Continue Reading
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