International survey measures FOP burden in patients and their families

[Author: Laura Cowen]

An international survey of patients with fibrodysplasia ossificans progressiva (FOP) and their families has shown that decreased joint function is associated with reduced quality of life (QoL), greater reliance on living adaptations, and economic implications.

Mona Mukaddam (University of Pennsylvania, Philadelphia, USA) and colleagues say their research “will improve understanding of the impact of FOP on patients and family members, which is important for identifying unmet needs, optimizing care, and improving support for the FOP community.”

The survey was administered by FOP patient associations in 15 countries (Argentina, Brazil, Canada, France, Germany, Italy, Japan, Mexico, Poland, Russia, South Korea, Spain, Sweden, the United Kingdom, and the United States) between January and April 2021 and was available in 11 languages.

In all, 219 patients (mean age 24.2 years, 63.4% female) and 244 family members (mean age 47.1 years, 69.3% female) responded to assessments measuring joint function, QoL, healthcare service and living adaptation utilization, out-of-pocket costs, employment, and travel.

Approximately one quarter (24.1%) of participants had a Patient-Reported Mobility Assessment (PRMA) level of 1, indicating the lowest level mobility limitation, and one third (33.8%) had a PRMA in level 4, representing the most severe mobility limitations.
Mukaddam and team found that worsening mobility increased with age and there was a significant positive association between limitations in joint mobility and ability to conduct activities of daily living as well as QoL.

For example, the mean EuroQoL health-related QoL questionnaire (EQ-5D-5L) score was 0.24 points for patients (≥13 years; n=152) overall, but was 0.61 points (indicating higher QoL) for those with level 1 PRMA total scores versus 0.05 points among those in Level 4.

For family members, the mean EQ-5D-5L score was 0.85 points overall (n=238) and was slightly lower, at 0.83 points, among the primary caregiver subpopulation (n=158; 85.4% female). There was no significant association between family members’ QoL scores and patient mobility level, however.

Primary caregivers also completed the Zarit Burden Interview (ZBI) to assess the impact of caring for a family member with FOP on health and psychological wellbeing. The assessment revealed that 45.1% had a ZBI total score between 21 and 40, indicating a mild to moderate impact on their health and/or psychological wellbeing. This proportion increased to 56.7% for primary caregivers of patients below 8 years of age (n=30).

By contrast the majority (57.7%) of primary caregivers caring for the oldest group of patients (≥25 years; n=26) reported little or no impact on their health and/or psychological wellbeing. In both cases, ZBI scores were not associated with PRMA scores.

Most (79.2%) family members said that learning of their relative’s FOP diagnosis “was very/extremely difficult”, and 85.4% said that the occurrence of flare-ups in their relative “was very/extremely stressful.”

In addition, approximately two thirds (67.7%) of family members were “often/always worried” that their relative with FOP may hurt themselves while 57.5% found the challenges of FOP very/extremely stressful.
In spite of this most (73.4%) family members believed that caring for a relative with FOP had little or no negative impact in terms of social interaction.

Travel, however, was affected for adult FOP patients (n=142) with the impact increasing with increasing loss of mobility. Half of patients with PRMA total scores in Level 4 said they were unable to travel by plane, 34.4% were unable to travel by car, and 59.0% of this group said that financial costs limited or prevented travel entirely compared with 47.7% of patients overall.

The majority (82.8%) of adults with FOP agreed that the disease had impacted career decisions. In addition, 38.9% of family members and 51.3% of primary caregivers said they had adapted their career to look after their relative with FOP, with primary caregivers missing a mean 31 days of work in the 12 months prior to completing the survey due to caring for a family member with PRMA total scores in Level 1.

In terms of economic burden, the most common cost of care in the majority of countries was medical therapies or doctors, and more than 83% of participants reported at least one expense across the five living adaptation areas (aids, assistance devices, and adaptations [AADAs] and medical therapies or doctors) in the 12 months prior to completing the survey.

For participants from the United States, the mean cost of care in the 12 months prior to survey completion was higher for patients with PRMA total scores in levels 3 and 4 than for those with PRMA total scores in levels 1 and 2.

In addition, a patient’s PRMA score was significantly and positively associated between the number of living adaptations used in the 12 months prior to survey completion.

Taken together, “[t]hese findings suggest that as mobility loss increases, patients and their family members are subject to a greater financial burden,” Mukaddam et al remark.

They add: “Higher costs for patients with more severe mobility loss may be attributable to a greater number of living adaptations used and/or the use of more complex and expensive living adaptations.”

The researchers conclude that the “survey demonstrated that progressive loss of joint mobility and function, and decreased ability to carry out daily activities, is associated with a considerable, negative QoL impact for people with FOP and a mild to moderate impact on primary caregivers’ health and/or psychological wellbeing, particularly for those looking after younger children with FOP.”

They add: “Overall, the findings from this survey highlight how the needs and priorities for people with FOP and their family members may change during different phases of disease progression, and can provide insight into the resources and support that individuals and their family members may require at various points in time.”

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