On 20 September, Health First Europe attended a debate in the European Parliament on the issue of haemochromotosis – a genetic disease causing an overload of iron in the blood. HFE member organisation, The European Federation of Associations of Patients with Haemochromotosis (EFAPH), organised the event in order to raise awareness about this rare disease and inform policymakers of what steps can be taken to inform and protect citizens from this often unknown and overlooked genetic disease.
Introducing the issue and the need for action in this disease area, MEP Jo Leinen (ALDE, Germany) suggested that the sharing of best practices between Member States, particularly in terms of genetic databases, would help to inform patients and prevent the complications associated with haemochromotosis which can include liver cancer, diabetes and cardiac failure. Additionally, MEP Antonyia Parvanova (Bulgaria, ALDE), highlighted the importance of considering rare diseases at the EU level due to the enormous impact diseases such as haemochromotosis can have on the cost of health systems throughout Europe. As simple genetic testing of adults can determine who has the disease, complications associated with the overload of iron in the blood can be prevented with simple treatment (i.e. phlebotomy).
Though haemochromotosis is not a well-known disease, it affects nearly 1 in 300 Europeans and currently 2 million people suffer from it, especially in Ireland where Celtics are more susceptible to the genetic mutation which causes harmochromotosis. Overcoming the lack of awareness about the disease is extremely difficult as diagnoses can sometimes occur almost 10 years after the first onset of symptoms. During the time between the onset of symptoms and diagnosis, patients can develop severe complications as the overload of iron in organs causes irreversible damage and sometimes death. EFAPH hopes that continued debates such as these will make both professionals and patients more aware of the symptoms which can be signs of haemochromotosis such as chronic fatigue, arthritis and hyper-pigmentation.
Overall, the event highlighted the need for the EU institutions to consider rare, genetic diseases as an important health issue. If known and tested for amongst adults, the reduction in severe complications for sufferers could have a major affect not only on patients, but particularly on the costs to health systems.