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Helping people with HAE to take control

For HAE Day, we take a look at the impact of this rare disease, which causes painful swelling, on the one in 50,000 people who have it.

Girl in cardigan sitting on sofa with balloon saying here's Rhiannon
Rhiannon is among the one in 50,000 people believed to be impacted by the rare disease HAE.

Hereditary Angioedema (HAE) is a rare, chronic genetic disease, characterised by disfiguring and debilitating attacks of swelling.

These attacks, which may affect a person’s face and throat or other parts of the body, are unpredictable, painful, and can severely impact quality of life.

It is estimated that about one person in 50,000 may -- like Rhiannon pictured above -- be affected by HAE. Because it is so rare, and GPs see so few cases, it may take a long time for patients to be correctly diagnosed with the disease, which is caused by a deficiency of functional C1-inhibitor protein (C1-INH).

In the recent years there have been many advances in managing HAE. New treatments have become available, leading to improved outcomes and quality of life for patients.

According to the latest guidelines from the World Allergy Organisation and European Academy of Allergy and Clinical Immunology, HAE treatment should aim to achieve total control of the disease and normalise patients' lives.

This means patients no longer having attacks, an objective which can only be achieved by long-term prophylactic treatment (also referred to as long-term prophylaxis or LTP).

However, access to long prophylaxis treatment is limited to patients who meet a threshold of certain number of attacks per month or week. Most patients continue to treat their attacks when they happen with on-demand medication.

People who have a lot of HAE attacks often experience a low quality of life. However, some patients with low rates of attacks rate also find their quality of life markedly impaired.

This can be due to the unpredictability of HAE and continuous fear of attacks, the need to avoid triggers, psychological distress due to chronic disease, and the presence of other conditions, such as depression and anxiety, which are common in HAE patients.

A survey of 69 HAE patients in the Netherlands found more than one third were not well-controlled and experienced relatively low quality of life.

This highlights that patients are still suffering the burden of the disease unnecessarily. All patients in UK and Ireland should be considered for long term prophylaxis if appropriate, which may help to reduce the frequency and severity of HAE attacks.


GBR-CRP-0439 May 2023