Even compared with other patients with chronic diseases, patients with Fabry disease had a very poor quality of life.
Patients with Fabry disease (FD) not only have poor quality of life (QOL), but they also have worse QOL compared with patients with other severe chronic diseases, according to the results of a questionnaire sent to Italian patients with FD. The study results were published in Diseases.
FD is an inherited disorder linked to the X chromosome and caused by mutations in the GLA gene. The resulting mutation causes a deficiency in the lysosomal enzyme α-galactosidase A, which in turn causes various clinical manifestations because of an accumulation of globotriaosylceramide throughout the body.
FD results in severe and permanent damage to different tissues and systems and can cause an increased risk of ischemic strokes, heat intolerance, and gastrointestinal symptoms. In addition, they may have ocular, audiological, and skin involvement.
The purpose of the survey was to assess how FD changes the perception of oneself and can influence QOL. A total of 106 patients completed the questionnaire. Respondents’ average age was 42 years but ranged from 5 years to 77 years. The mean age at diagnosis was 31.6 years. The majority (59.9%) of respondents were women and 82.1% were receiving Fabry-specific treatment (74.5% on enzyme replacement therapy and 7.6% on oral therapy).
Part of the questionnaire was the EuroQol 5-dimensional questionnaire (EQ-5D), which provides a measure of health-related QOL (HR-QOL). Nearly half (45.3%) of patients said they had difficulty carrying out normal daily activities and another 1.9% said they could not do them at all. In addition, 28.3% of FD patients said they have difficulty moving with 0.9% fully bedridden.
Additional findings were:
Patients over the age of 50 and women were more likely to report difficulties. One-third of patients age 60 to 69 years reported feelings of loneliness and isolation and two-thirds in the over-70 group reported depression, relational problems, and fear of other people’s judgement. While 23.8% of women noted symptoms of depression and another 23.8% reported feelings of solitude, only 20.9% and 18.6% of males reported the same symptoms and feelings. In addition, females were more likely to report fatigue compared with males (66.7% vs 58.1%). However, for pain-related problems there were no significant differences among genders.
Patients with FD had an average HR-QOL of 0.72 quality-adjusted life-years (QALYs). The average Visual Analogue Scale score was 0.65. The authors compared these results with a previous cost-of-illness study, which found patients with FD had significantly poorer QOL compared with chronic hepatitis (0.90 QALY), cirrhosis (0.82 QALY), hepatocellular carcinoma (0.80 QALY), and orthotopic liver transplantation (0.83 QALY). QOL was slightly lower than multiple sclerosis (0.74 QALY).
“The findings further confirm that FD affects patients’ lives and influences their social choices,” the authors concluded. “The feeling of rejection as well as the sensitivity to other people’s opinions are among the psychological motivations that characterize the most vulnerable patients.”
Polistena B, Rigante D, Sicignano LL, et al. Survey about the quality of life of Italian patients with Fabry disease. 2021;9(4):72. doi:10.3390/diseases9040072