Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease

American Journal of Medical Genetics. Part a
W PackmanS Packman

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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Citations

Jul 26, 2015·Journal of Inherited Metabolic Disease·Sara D KhanguraUNKNOWN Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Apr 26, 2012·Molecular Genetics and Metabolism·Stacy L WeberWendy Packman
Mar 4, 2020·American Journal of Medical Genetics. Part a·Andrea G AliotoWendy Packman
Apr 16, 2020·World Journal for Pediatric & Congenital Heart Surgery·Qi Feng WangSamuel Menahem
Mar 29, 2021·Neuroscience and Biobehavioral Reviews·Christine B SiebergIgor Elman
Apr 12, 2018·Health Psychology and Behavioral Medicine·Eduardo Remor, Antonio Baldellou

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