Family Caregivers of Patients With Gaucher Disease Report Lower Quality-of-Life Scores

Gaucher disease is a rare metabolic condition that causes a fatty substance to build up in the organs and bones. Patients can suffer liver enlargement, anemia, and reduced platelets; they experience fatigue, bone infarctions, and permanent disability or death.

Family members who care for patients with Gaucher disease (GD) reported lower health-related quality of life (HRQOL) scores than the general population in every area of an online survey, according to a recent study conducted in China.

Investigators from Harbin Medical University in Heilongjiang, China, reported the survey results last month in Molecular Genetics and Genomic Medicine.

Forty-nine family caregivers completed the Medical Outcome Study Short Form-36 (SF-36), a questionnaire that records self-assessments in anxiety, depression, and perceived social support; along with measures of physical function and limitation, social and demographic data, and an index of each person’s perception of hope in the future. Participants were recruited through the China Gaucher disease family exchange group, a large GD platform that allows persons interested in the disease to share information.

Gaucher disease is a rare metabolic condition that causes a fatty substance called glucosylceramide to build up in the organs and bones. While rare, it is inherited and progressive, so caregivers know that when a single family member develops GD, there is a chance that others may have the condition. Patients with GD suffer severe symptoms that include liver enlargement, anemia, and reduced platelets; they experience extreme fatigue, bone infarctions and permanent disability or death.

Family caregivers, typically parents or a spouse, take on the physical and emotional demands of providing for the person with GD, almost always without compensation, at least in China. Their study sought to explore the burden of rare disease beyond the patient.

“In addition to the personal experience of suffering, rare diseases are also a family event,” the authors write. “As is the case with most chronic conditions, rare diseases have a major impact on the daily life of a patient's whole family.”

Because the SF-36 is a widely used tool, investigators could compare results from the family caregivers across 8 measure clusters, or domains. The family caregivers (FC) scored lower than the general population (GP) of China across all domains (P < .0001 for all comparisons). Results were:

  • Physical function: FC 63.78 ± 30.21 vs GP 87.92 ± 16.98
  • Role physical: FC 27.55 ± 24.07 vs 77.50 ± 34.86
  • Bodily pain: FC 53.57 ± 24.17 vs GP 82.22 ± 16.98
  • General health: FC 38.93 ± 21.91 vs GP 62.51 ± 17.88
  • Vitality: FC 45.31 ± 18.58 vs GP 68.17 ± 17.63
  • Social function: FC 48.98 ± 26.63 vs GP 80.67 ± 19.98
  • Role emotional: FC 20.41 ± 18.15 vs GP 67.86 ± 39.44
  • Mental health: FC 48.33 ± 16.02 vs GP 68.47 ± 16.90

The investigators found that caregiving help from others, anxiety, perceived disease severity, and medical insurance type were significant predictors of the mental health component of the summary scores.

Family caregivers outside China’s cities, who had New Rural Cooperative Medical Care insurance, had lower scores for the mental health component compared with urban workers, which the authors speculated may be related to differing reimbursement schemes for drugs for GD. In more developed areas, a different insurance system with improved reimbursement covers therapies for the condition, which reduces the economic burden on family caregivers.

“However, patients in rural areas without such coverage had huge financial burdens,” the authors wrote. “This highlighted an urgent need for reasonable and impartial medical insurance to help ease family financial burdens across regions.”


Xu J, Bao H, Qi X, et al. Family caregivers of rare disease: A survey on health-related quality of life in family caregivers for Gaucher disease patients in China. Mol Genet Genom Med. Published online August 13, 2021. doi:10.1002/mgg3.1760