Media release

7 November 2018

Feature article by Dr Roseanna Brady.

In 2017, Haemochromatosis UK ran an online survey for people with genetic haemochromatosis (GH).  Almost 2,000 people responded.  Because HUK wanted an independent, reliable report from the survey, a research team at the University of Surrey was asked to analyse the responses. The report, LIVING WITH THE IMPACT OF IRON OVERLOAD: Report from a survey of people with haemochromatosis, was launched at the House of Commons on 31 October 2018. What follows is a brief summary of the report.

Genetic haemochromatosis  is a  metabolic disorder that causes the body to absorb too much iron from the diet. The excess iron is   stored in various organs, mainly the liver, but also the heart, endocrine glands such as the pancreas, and joints. This is iron overload, one of the most common genetic conditions, predominantly affecting people from White North European backgrounds. People from Celtic backgrounds, particularly of Irish ancestry, are more likely to be affected. Symptoms of GH include fatigue, joint disease, skin problems, and sexual health issues. Left untreated GH can cause serious illness such as liver cancer and cirrhosis. Click here to find out more about haemochromatosis.

The survey

The survey included questions about symptoms, experiences of diagnosis and treatment, and experiences of healthcare. The survey itself and details of the statistical methods used to analyse the responses are available to download here.

Key findings

Respondents While 71% of responses came from people in the UK, a further 11% lived in the US and 8% in Ireland.  Most were of White Northern European ethnicity. The average age was 55 (from age 18 to 91) and 58% were female.

Symptoms Over 80% of people who took the survey reported experiencing fatigue and joint pain.  A range of other symptoms were also reported including sexual dysfunction and skin problems.  Most notably, 63% said they had persistent and often painful symptoms and these people were more likely to have had a later diagnosis than those with fewer or less severe symptoms.

Diagnosis and treatment Most people in the UK were diagnosed after discussing symptoms with a doctor (mainly by GP, haematologist or gastroenterologist). Almost a quarter (22%) were diagnosed because a family member had GH. There was wide variation in people’s experiences of diagnostic tests, both for themselves and their families.

Experiences of healthcare Most UK respondents said they were treated with venesection (removal of blood). Overall, they felt that venesection improved symptoms.  Most were satisfied with their care and with the support provided by specialist consultants.  Information and support provided by GPs, however, was poorly rated by a third of respondents.

Summary This survey showed that a high percentage of people with GH live with persistent pain and fatigue, potentially life-limiting symptoms.  It revealed that a wide range of other symptoms were also experienced, and more research is needed to find out if these symptoms (e.g. psychological and cognitive) are directly linked with GH, are a result of other symptoms of GH, or are unrelated. The survey stated that people who were diagnosed earlier experienced fewer and less severe symptoms, highlighting the importance of early diagnosis. The survey demonstrated that most people were treated with venesection and said that treatment improved their symptoms. The report also highlighted evidence of inconsistency in the way individuals and their families are tested for GH.

Recommendations The report authors recommend improvements in awareness of clinical guidelines for diagnosis and management of GH.  They call for further research in to symptoms and their impact on people’s lives and investigation into differences in treating and monitoring of people who live with GH.

Written by Dr Roseanna Brady, Health Psychologist at Bridges Clinic, Bedford Hospital, and a trustee at Haemochromatosis UK.

ENDS

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Notes

Download the full report and resulting calls to action document for free here. Join the conversation: Facebook, Twitter #IronOverloadReport

Haemochromatosis UK grants to you a worldwide non-exclusive royalty-free revocable license to view this report on a computer or mobile device, copy and store the report, and print pages from the report for your use.

Haemochromatosis UK permits any user to read, download, copy, distribute, print, search, or link to the full texts of the report, crawl it for indexing, pass it as data to software, or use it for any other lawful purpose, without financial, legal, or technical barriers other than those inseparable from gaining access to the internet. The only constraint on reproduction and distribution, and the role for copyright in this context, is to give Haemochromatosis UK and the report authors control over the integrity of their work and the right to be properly acknowledged and cited.