Haemochromatosis and the importance of early diagnosis

Haemochromatosis is one of the most common genetic disorders in Northern European people. When treated quickly, iron levels can be reduced and severe damage avoided, however, when treatment is delayed, it can lead to liver damage and heart problems.

What causes haemochromatosis?

Haemochromatosis is caused by the excess absorption of iron from the upper small intestine which then accumulates in the body’s tissues.

It is a genetic disease and those who are at risk, or who have haemochromatosis, can help avoid iron buildup by maintaining a balanced diet.

The body has no means of getting rid of the excess iron and so, if undiagnosed and untreated, this accumulation causes widespread tissue damage which leads to conditions such as diabetes, liver cirrhosis, liver cancer, Addison’s disease and cardiomyopathy.

What are the symptoms of haemochromatosis?

Symptoms of haemochromatosis usually begin between the ages of 30 and 60, although they can present earlier. There are not always any obvious symptoms, but some early signs include fatigue, weight loss and joint pain. Later symptoms can include chest pain, shortness of pain and abdominal pain.

If you are at risk of haemochromatosis and you have any of these symptoms, you should contact your GP as soon as possible to prevent any delay in treatment.

The first sign of the condition is usually found in a simple blood test, and it will present itself with a raised ferritin level in the blood and other abnormalities.

How can haemochromatosis be treated?

Early diagnosis involves screening for Genetic Haemochromatosis where individuals present with a raised ferritin, and treatment involves removing the excess iron via a venesection (phlebotomy) to avoid tissue damage. When diagnosed and treated early, life expectancy is normal.

Unfortunately, many patients in the UK with raised serum ferritin levels in their blood are not screened for Genetic Haemochromatosis. Instead, they are diagnosed after they have developed liver cirrhosis and diabetes. If cirrhosis of the liver is present, there is a high risk of liver cancer developing. It is therefore important to diagnose the condition as early as possible.

Delays in treatment for haemochromatosis

According to a 2019 survey by Haemochromatosis UK, which included 176 Trusts and health boards across the UK, waiting times for haemochromatosis patients varied enormously, with some Trusts referring patients within seven days and others taking over 100. The maximum waiting time for non-urgent, consultant-led treatment was 18 weeks; by which time someone with Genetic Haemochromatosis could have dangerously high serum ferritin and transferrin saturation levels and the possibility of underlying liver cirrhosis.

Only 111 Trusts responded to the survey, which suggested that there was either unawareness of the length of waiting lists or simply an unwillingness to disclose the true picture.

Only 5% receiving care

Another worrying finding was that, according to another 2019 study, over 380,000 people in the UK have Haemochromatosis and are at risk, and yet, according to the Haemochromatosis UK survey, only 20,698 people were receiving care.

The same study found that 46% of those surveyed did not use the genetic haemochromatosis protocol and/or patient pathway for people with genetic haemochromatosis. Almost half of the remaining 54% had developed their own protocol.

For those who were using the official guidance, however, the survey discovered that five Trusts were using guidance that was 20 years old and did not recognise a known variant of the condition.

The consequences of delayed treatment

Our clinical negligence solicitors are all too aware of the consequences that delayed treatment of haemochromatosis can have on patients and their loved ones.

Our team has represented two individuals who lost family members because this potentially lethal condition had not been diagnosed early enough. One case was only diagnosed once liver cirrhosis presented and the other when liver cancer developed. Both would have had normal life expectancies had their condition been diagnosed when their blood tests revealed high ferritin levels.

Case study | Delayed diagnosis of haemochromatosis leading to liver cirrhosis and liver cancer

How can those at risk from haemochromatosis ensure they are treated promptly and properly?

Haemochromatosis UK endorses the national clinical guidelines published by the British Society for Haematology in April 2018, which represent best practice in clinical care pathways for people with genetic haemochromatosis. It strongly encourages patients to ensure that their consultants and venesection teams work to the BSH April 2018 guidelines, and would encourage patients to ask the question when seeing their GP or attending hospital.

Claiming for delayed diagnosis or treatment of haemochromatosis

If you or a loved one has been affected by the delayed diagnosis and/or treatment of haemochromatosis, our medical negligence solicitors are here to help.

Our expert solicitors can help you to get the answers you need and rebuild your life by obtaining compensation. For an initial appointment with a member of our clinical negligence team, call us on 0117 325 2929 or fill out our online enquiry form.