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Living with haemochromatosis

By Mindo - 04th Dec 2018

Test tube with blood sample for ferritin test

On 31 October 2018, Haemochromatosis UK launched a report entitled: ‘Living with the impact of iron overload’, based on a survey of 2,000 people from around the world (7.7 per cent from Ireland) with haemochromatosis or the genetic markers for the condition, who answered questions on a wide range of topics including perception of symptoms, experience at diagnosis, information about treatment and perception of support.

The report launch was attended by Ms Margaret Mullett, Chairperson of the Irish Haemochromatosis Association and the findings have much relevance for Irish haemochromatosis patients.

The report highlighted the wide array of symptoms experienced by people with haemochromatosis and the fact that while knowledge of the biological mechanisms at work in haemochromatosis continues to develop, little research is published on the impact of the condition on people’s lives.

The most common symptoms that survey respondents reported having ever experienced were arthritis or joint pain, fatigue, psychological or cognitive difficulties, skin problems, menstrual problems and sexual health issues.

The research backs the argument that haemochromatosis should now be primarily perceived as a chronic condition, the researchers said.

Findings breakdown

Key findings included that 73 per cent of the respondents experience psychological difficulties, 58 per cent experience sexual health issues, 70 per cent experience skin problems, 81 per cent experience fatigue and 87 per cent experience arthritis or joint pain.

Of those who answered the question about which genetic mutation was associated with their haemochromatosis diagnosis, nearly a quarter (24.7 per cent) reported either not knowing the results of their tests or having never received a test. Of those who did know their mutation, the most frequently reported was two copies of C282Y (ie, being C282Y homozygous), with the second most frequently reported mutation being the C282Y/H63D compound heterozygote.

In those who reported that they had ever experienced arthritis and/or joint pain, the most common locations were knuckles (69.3 per cent), hip (56.8 per cent) or hand/wrist (46.9 per cent).

The most commonly reported cognitive or psychological difficulties that survey respondents ever experienced were forgetfulness or ‘brain fog’ (60.44 per cent) and depression (37.93 per cent).

The most commonly reported types of skin issues that survey respondents ever experienced were itchiness (45.31 per cent), tanning or bronzing of the skin (27.93 per cent), or blotchiness or rashes (24.33 per cent).

When asked about specific sexual health issues they had ever experienced, 58.4 per cent of women reported that they had experienced a loss of libido and 39.41 per cent of men had experienced issues with impotence.

The researchers also looked at the difference in current symptoms between the following age groups; 18-39, 40-59 and 60 years or older.

They found age groups differed in their current experience of various health issues:

People aged 40-59 and 60 or older were more likely than the youngest age group to report current issues with arthritis or joint pain.

People aged 60 or older were less likely than the younger age groups to report current issues with fatigue, abdominal pain, psychological or cognitive difficulties, breathing or heart difficulties or liver problems.

People aged 18-39 were more likely than older age groups to report current issues with sexual health problems, menstrual problems and pituitary dysfunction.

People aged 40-59 were more likely than other age groups to report current issues with breathing or heart difficulties.

The researchers reported that over 90 per cent of the survey respondents were being treated through venesection.

For most symptoms, respondents felt that de-ironing improved their experience of symptoms, regardless of current treatment status.

However, researchers found a difference between the treatment groups for the current experience of arthritis or joint pain, fatigue and psychological or cognitive difficulties:

People who had been diagnosed, but had no treatment were less likely than other groups to report current issues with arthritis or joint pain.

People who were in maintenance were less likely than other treatment groups to report current problems with fatigue or psychological and cognitive difficulties.

People who were in the initial de-ironing phase were more likely to rate arthritis or joint pain as a current issue than other treatment groups.

People who had been diagnosed, but were not yet treated were more likely than other groups to report current psychological and cognitive difficulties.

People who had stopped treatment were more likely to report current problems with arthritis or joint pain and fatigue than other groups.

The researchers said their findings also confirm that it is important to ensure that all clinicians who might work with people who have haemochromatosis have a good understanding of the condition, with scope to improve awareness among GPs.

Key recommendations

The report made the following four recommendations:

There is a need to improve awareness of haemochromatosis and current clinical recommendations.

There is a need for more clinical research to better characterise the symptoms associated with haemochromatosis.

There is a need for more research to better understand the impact of haemochromatosis-related symptoms on people living with haemochromatosis.

There is a need for more work to understand why individual differences in treatment may exist.

The full report is available at:

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