he impact of Gaucher disease and its treatment on quality of life

Abstract

To obtain information about how Gaucher disease and its treatment, specifically enzyme replacement therapy, affect patients' health-related quality of life (HRQoL), we interviewed 16 patients with type I Gaucher disease (range 8-67 years). All but three patients had been receiving enzyme replacement therapy for at least 6 months. The quality of life factors examined for these patients included physical health, social life, emotional health, financial burden, future plans and satisfaction with health care. The results indicated that bone pain and chronic fatigue interfered with school, job and social activities and were the most debilitating symptoms of Gaucher disease. Most patients experienced a significant increase in energy level from therapy and reported significant improvements in quality of life. Most patients did not perceive an effect of Gaucher disease on their overall emotional health, but some patients expressed anxieties about the discomfort, inconvenience and high costs of therapy. We conclude that a measure of HRQoL for Gaucher patients should include a generic core of items supplemented by disease-specific items designed to assess the changes in symptoms and in the occupational, recreational, social and emotional aspects of patients' lives that occur as a result of disease progression and/or management.

Rethinking fatigue in Gaucher disease

“…Fifteen manuscripts were published in English [11,[13][14][15][16][17][18][19][20][21][22][23][24][25][26], and the remaining 4 articles were published in German [27], French [28], Hungarian [29], and Danish [30]. For the articles published in German, French, Hungarian, or Danish, English-language abstracts were available and reviewed.…”

“…Hayes et al [11] interviewed 16 patients about chronic fatigue and other symptoms. Of these, 13 patients had been receiving ERT for 6 months or longer.…”

“…Of these, 13 patients had been receiving ERT for 6 months or longer. To measure fatigue, the authors developed open-ended questions based on several quality-of-life instruments [11]. Overall, 14 patients (88 %) reported being easily fatigued and 8 patients (50 %) mentioned sleeping many hours or needing naps [11].…”

“…Patients with GD may also experience chronic fatigue that causes functional disability and adversely affects quality of life [11]. Objective disease manifestations such as anemia and bone pain can cause or contribute to fatigue [8].…”

“…Objective disease manifestations such as anemia and bone pain can cause or contribute to fatigue [8]. For some patients, fatigue may be the most debilitating symptom of the disease [11]. Practice guidelines for patients with GD do not currently include specific measurements of fatigue [9]; moreover, management of fatigue per se is not included in established therapeutic goals, although reducing fatigue is mentioned under therapeutic goals for anemia in patients with GD [8].…”