Pacific Graduate School of Psychology, Palo Alto University, Palo Alto, California, USA.
Am J Med Genet A. 2010 Aug;152A(8):2002-10. doi: 10.1002/ajmg.a.33527.
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. Five core themes emerge: (1) difficulty coping with the diagnosis; (2) impact of pain on work, career, and recreational activities; (3) insurance concerns; (4) psychological distress (e.g., mood changes and anxiety); and (5) positive effects-strengthened family and social relationships and positive outlook. Our results highlight and expand awareness of the psychological and social needs of GD patients. This study calls for a collaborative, multidisciplinary effort in treating these patients and their families.
戈谢病（GD）是最常见的遗传性溶酶体贮积症。在 GD 的三种变体中，1 型占 90%。GD 患者患有多种医学症状和疾病。1 型 GD 的临床特征包括肝脾肿大；血液学并发症，如贫血和血小板减少；以及导致骨坏死、骨质疏松和骨硬化的骨骼疾病。GD 作为一种慢性疾病具有独特的特征：该疾病通常表现出轻微的症状，并且经常在儿童后期或成年期被诊断出来。治疗方法，酶替代疗法（ERT）是有效的。然而，同样有效的治疗方法具有侵入性、昂贵，并且要求患者重新安排他们的工作和个人日程。由于发病年龄可以在婴儿期到 80 岁之间，因此诊断过程可能会延长并带来压力。尽管 ERT 取得了成功，但 GD 患者表现出明显的心理并发症[Packman 等人（2006）；J Inherit Metab Dis 29:99-105]。在本研究中，我们使用 28 名受 GD 影响的个体的深入访谈，从患者的角度描述了 GD 的关注点、需求、挑战和积极影响。出现了五个核心主题：（1）难以应对诊断；（2）疼痛对工作、职业和娱乐活动的影响；（3）保险问题；（4）心理困扰（例如，情绪变化和焦虑）；（5）积极影响——增强的家庭和社会关系以及积极的前景。我们的研究结果强调并扩大了对 GD 患者心理和社会需求的认识。这项研究呼吁对这些患者及其家庭进行协作的、多学科的治疗努力。
