Background

Genetic haemochromatosis (GH) is a long-term genetic disorder which can cause increased iron absorption and accumulation in organs [2-5]. GH is associated with a range of symptoms and conditions, including joint issues, chronic fatigue, and cognitive difficulties [6-10], which may persist even following treatment to reduce blood iron levels [11].

Quality of life (QoL) is defined by the world health organisation as an ‘individuals’ perception of their position in life in the context of culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns’ [12]. Previous studies comparing QoL between people diagnosed with GH and healthy people are limited.

The aim of this study was to compare QoL between people diagnosed with GH and healthy people, using the WHOQOL-100 survey. The study then aimed to use a survey designed for people diagnosed with GH to identify possible reasons for the differences in QoL and suggestions of how to improve QoL. The study hypothesised QoL would be significantly lower in people diagnosed with GH compared to healthy people.

Methods

WHOQOL-100

The WHOQOL-100 survey consists of 100 questions which assess different areas of life. Scoring of these questions allows calculation of overall QoL, 24 facet, and physical, psychological, level of independence, social relationship, environment, and spiritual domain scores. WHOQOL-100 data was collected and analysed from 1039 respondents diagnosed with GH and 535 healthy respondents. Appropriate statistical tests were selected and used to compare data between the healthy respondents and respondents diagnosed with GH.

 

GH-Focussed Survey

The GH-focussed survey was designed specifically for people diagnosed with GH to further investigate QoL. GH-focussed survey data was analysed and collected from 985 respondents diagnosed with GH.

 

Results

WHOQOL-100

Overall QoL score was significantly lower in respondents diagnosed with GH (13.6 ± 0.11) compared to healthy respondents (14.6 ± 0.15). Physical, psychological, level of independence, and spiritual domains were significantly lower in respondents diagnosed with GH, but the environment domain was significantly higher in respondents diagnosed with GH. 45.9% of the respondents diagnosed with GH were diagnosed with another long-term illness/condition; joint issues were the most common.

 

GH-Focussed Survey

96.4% of GH-focussed survey respondents reported at least one physical symptom since diagnosis of GH. The symptoms that were the most common and had the biggest impact on daily activities were arthritis/joint pain, chronic fatigue and brain fog.

            85.7% of respondents experienced at least on mental health symptom in the past month. The top three symptoms were sleeping problems, low mood, and increased worrying/anxiety. GH had a negative impact on mental health (48.6%) and anxiety (37.2%), and 6.40% respondents received a mental health diagnosis after GH diagnosis.

            61.2% of respondents were in paid employment, but 5.3% had to leave due to poor health. Most respondents reported impact of GH on work and social activities and relationships. Work interference was mainly due to fatigue (28.0%) and brain fog (14.1%).          Only 40.3% of respondents were provided with information from an NHS professional following GH diagnosis. 24.0% of respondents reported difficulty in obtaining a genetic test and this resulted in anxiety in 52.1% of these. Most respondents were moderately (32.5%) or very (29.5%) satisfied with their medical care, but respondents suggested that quicker diagnosis, more frequent appointments and monitoring, and better GH understanding from healthcare professionals would aid in increasing medical care satisfaction. Respondents also suggested that increased medical care, appointments, monitoring, and understanding and awareness of GH in health professionals would increase QoL.

 

Discussion

This study found that overall QoL in respondents diagnosed with GH was significantly worse than in healthy respondents, and this may be explained by the physical and psychological symptoms. Respondents suggested that improvements to healthcare may aid in improvement of QoL in people diagnosed with GH. Specifically, the improvements which could be implemented include increased medical appointments and monitoring, better awareness and understanding of GH from medical professionals, earlier diagnosis and quicker treatment.

            There were some limitations of this study which included the fact surveys were self-assessment and advertised online, and the long length of the surveys. This study also only captured current QoL, there were some slight age and sociodemographic differences, and there was a lack of respondents under 30.

            In the future, longitudinal studies assessing QoL over time, studies evaluating effectiveness of current GH treatments and interventions, and analysis of QoL in each GH genotype would aid in expanding understanding of QoL in people diagnosed with GH.

 

Conclusion

In conclusion, QoL was significantly worse in people diagnosed with GH compared to healthy people and implementation of increased GH awareness and improvement to medical care may aid in QoL improvement.

 

You can read Leah's full report here 

 

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