Understanding the HRQOL trajectories in patients with Fabry disease



Most patients with Fabry disease reported decreased physical and mental quality of life (HRQOL) over a 13-year follow-up.

According to a study in Orphanet Journal of Rare Diseases.

Patients with FD have multi-organ dysfunction and progressive clinical disease manifestations, with HRQOL expected to change over time. Using limited longitudinal studies of HRQOL in these patients, the authors examined the physical and psychological HRQOL courses at baseline, 3-5-year and 7-13-year follow-ups.

“The multiple effects of the medical complications associated with FD can have long-term consequences for an individual’s physical and mental performance,” said the authors. “In adult life, persistent difficulties with pain, fatigue, anxiety, depression, and employment have been reported.”

To evaluate the results in the longitudinal section, the researchers used 8 domains of the medical results scale with 36 elements in short form for health survey (SF-36). The 43 people with FD who were observed were part of a program at Oslo University Hospital in Norway. The median age at baseline was 47 years and 53% of the participants were female.

Left ventricular hypertrophy was the most common clinical manifestation (59%) followed by corneal verticillate (56%), hearing loss (50%), small fiber neuropathy (49%), precerebral vascular arteriosclerosis (43%), and a history of a cerebrovascular event (35%) ). Men were more likely to experience small fiber neuropathy (75% vs. 26%). Men received treatment for FD for an average of 9.6 years versus 5.2 years for women.

Compared to a Norwegian general cohort, the FD participants had significantly lower domain values ​​in all 8 domains at the start of the study. From baseline to 7-13 year follow-up, 2 domains of SD-36 showed significant negative changes: physical functioning and social functioning. The role restrictions due to the emotional functional area showed an improvement up to 3-5 years, followed by a decrease of 7-13 years.

After performing two hierarchical linear modeling analyzes to examine factors associated with physical and mental HRQOL trajectories, the researchers found several significant predictors of HRQOL trajectories: gender, age, small fiber neuropathy, measured glomerular filtration rate (mGFR), cardiac Ejection fraction and a history of cerebrovascular events.

They found:

  • Small fiber neuropathy and lower mGFR were associated with poorer physical HRQOL. tied together
  • Females and young age were significantly associated with better physical HRQOL
  • There were no gender-age associations in the mental HRQOL
  • People without small fiber neuropathy had better mental HRQOL
  • Participants with no history of cerebrovascular events had better physical and mental HRQOLs

The small sample size due to the rare disease FD was noted as one of the main limitations of the study, as was the fact that the severity of the disease was not assessed in a structured manner at the follow-ups.

However, the researchers believe that the study’s results can help educate health professionals and patients with FD and their families, and help develop services for these patients. The annual clinical follow-up in connection with long-term medical data is one of the strengths of the study, according to the researchers.

“Findings from studies of HRQOL in FD should guide clinicians in various disciplines to understand patient needs early after diagnosis and enable an individualized plan for future health care,” the authors concluded.


Sigurdardottir S, Bjerkely B, Jenssen TG, et al. The influence of demographic and clinical characteristics on the course of health-related quality of life in patients with Fabry disease. Orphanet J Rare Dis. Published online October 12, 2021. doi: 10.1186 / s13023-021-02066-y



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