What impact does Gaucher disease have on patients’ quality of life?

A diagnosis of Gaucher disease may have an impact on patients’ quality of life, both physically and emotionally.1 A study of children aged 5‒17 years (n=17) and young adults aged 18‒30 years (n=15) with Gaucher disease Type 1 reported that these children had significantly lower health-related quality of life relative to children without Gaucher disease. Young adults with Gaucher disease Type 1 were reported to have mildly lower levels of physical functioning compared with their healthy counterparts.2 An additional study found that when patients were asked about their Gaucher disease, five core themes emerged: (1) difficulty coping with their 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 (i.e. strengthening of family and social relationships, and positive outlook).3

Results from a Spanish quality of life study of patients with Gaucher disease Type 1

The impact of Gaucher disease on health-related quality of life was assessed in patients over a 5-year period and compared with a Spanish adult normative group using a Spanish version of the Health Survey SF-36 questionnaire. A total of 69 patients with Gaucher disease were included in the study. Participant demographics were as follows: 47% male; mean (standard deviation [SD]) age, 33.6 (11.7) years; and mean (SD) age at Gaucher disease diagnosis, 22.9 (17.0) years. Most patients had organomegaly (87.0%) and 60.9% had bone disease. The degree of bone disease was graded as follows: 39.1% as Grade 0 (no symptoms); 30.4% as Grade 1 (moderate bone pain); 10.1% as Grade 2 (severe bone crisis); and 20.3% as Grade 3 (fracture or necrosis).1

At baseline, there were significant differences in both physical and mental health between patients with Gaucher disease and the general Spanish population. The main differences were identified in physical functioning, bodily pain, general health and vitality, and emotional role. Moreover, there was an association between bone disease and physical functioning, in that patients with Grade 1 (moderate bone pain) or Grade 3 (fracture or necrosis) bone disease had lower health-related quality of life scores for these domains (p=0.02) compared with patients with Grade 0 (no symptoms) or Grade 2 (severe bone crisis) bone disease. This finding may be attributed to Grade 2 bone disease being transitory rather than chronic.1

An investigation into living with Gaucher disease

Patients’ concerns, needs and perceptions of the challenges and positive effects of Gaucher disease were investigated using in-depth interviews from 28 patients in the US. Patient demographics: 11 males, 17 females; mean age, 48.3 years (age range, 17‒82 years); and mean age at diagnosis, 22.7 years (age range, 2‒62 years). The majority (75%) of patients were of Jewish ethnicity and the following Gaucher disease-related symptoms were reported: splenomegaly (82%), anaemia (71%), bone pain (71%), hepatomegaly (71%), fatigue (61%), frequent bruising (57%), nose bleed or bleeding problems (57%), enlarged abdomen (43%), fractures (29%) and liver problems (21%). In the case of 43% of patients, their spouse or significant other provided support in coping with Gaucher disease.3

Figure 1.
Examples of patients’ reactions to their Gaucher disease. Reproduced with permission from Packman W et al. Am J Med Genet A 2010; 152A: 2002-2010.3

Upon learning of their Gaucher disease diagnosis, the most common reactions felt by patients were concern (68%), relief (39%), shock (39%), disappointment (36%), sadness (32%) and fear (29%).3

Half of the patients included in this study reported being employed, with 86% working ≥35 hours/week. Gaucher disease reportedly affected 64% of patients in terms of their ability to do their job, with 11% reporting that their diagnosis had a ‘considerable’ or ‘extreme effect’ on their abilities; this finding was attributed to exhaustion, physical limitations and the scheduling of ongoing medical appointments. Many patients (46%) indicated that Gaucher disease had no effect on their career decisions; however, for others, career choices were dictated by insurance concerns and coverage (36%), and by physical limitations (36%).3

‘No pain’ was reported by 54% of patients with Gaucher disease; however, the remainder reported ‘little’ or ‘some’ pain (21%) or ‘moderate’ to ‘extreme’ pain (25%). Patients with daily pain stated they were used to living with the pain, and specifically noted that it affected their bones and joints, with variability in experienced pain levels. Severe fatigue and weakness were problems for 21% of patients, and 71% indicated that Gaucher disease affected their participation in recreational activities, from ‘some’ to an ‘extreme’ extent. The patients indicated that their participation or non-participation in physical activities was affected by movement difficulties, being careful to avoid injury or stress on joints, and complete avoidance of impact sports.3

The ability to meet family obligations, such as chores and parenting, affected 57% of patients with Gaucher disease. For 54% of patients, their diagnosis had no burden on family finances; however, 25% reported either ‘moderate’ or ‘extreme’ hardship. This finding was mainly because these patients could no longer work, were employed in lower-paying jobs, or needed to spend money on health-related expenses, medications and insurance premiums. Some patients were forced to borrow money to pay medical bills. ‘No effect’ or ‘little effect’ of Gaucher disease on immediate family-member relationships was noted by 75% of patients. For those patients who indicated that Gaucher disease had an effect on these relationships, the reasons given were family members’ worry about the disease and its course, as well as parental guilt and sorrow. Of the 28 patients included in the study, 25% had an immediate family member with Gaucher disease.3

In 57% of patients, Gaucher disease had ‘no effect’ on their social life and relationships with friends. However, for the 22% of patients who reported ‘moderate’ to ‘extreme’ effects, an inability to make plans, travel, dance or do physical activities was a problem. Some patients were also ashamed to discuss their diagnosis with their friends.3

A variety of emotions were described by the 28 patients included in this study, including anxiety or worry (35%), and depression or sadness (25%). Patients were stressed about the possibility of physically hurting themselves; about their futures; about losing or changing jobs and the associated effect on insurance coverage; and about the fear of missing treatment-related appointments. Nevertheless, 18% of patients stated more positive responses in regard to their emotional health, and Gaucher disease seemed to have little effect on their lives. These patients stated that they were generally happy people and that their diagnosis meant they had a better appreciation of life, tried to accept and deal with their problems, and tended to be strong people with positive attitudes. The majority of patients with Gaucher disease (93%) believed that they had the same or even a better outlook on life compared with other people they knew.3

Suggestions to improve the care of patients with Gaucher disease

The patients in this study were asked for suggestions on how to improve the care of those with Gaucher disease. The following points were noted by patients3:

  • There is a need for increased education about Gaucher disease, and although self-education is important, healthcare professionals need to provide more information to patients via individual or group information sessions, pamphlets or websites.
  • Physicians should be more ‘knowledgeable’ about Gaucher disease, in addition to being more empathic and specialised.
  • Physicians should work with patients, and appreciate and manage the symptoms of Gaucher disease as a chronic illness rather than as an acute illness.
  • More collaboration between patients and healthcare professionals is needed in terms of their care by tailoring treatment programmes to the patient.

C-ANPROM/INT//7566; Date of preparation: September 2020