Hereditary angioedema, a European initiative to shine a spotlight on a still under-recognized condition

Ahead of World HAE Day, BioCryst Ireland, a Neopharmed Gentili company, organised an international event in Milan bringing together leading experts from across Europe to raise awareness of the diagnosis and treatment of a rare, but not invisible, disease

MILAN, May 13, 2026 /PRNewswire/ -- To mark World HAE Day on May 16, BioCryst Ireland, a Neopharmed Gentili company, today announces a new initiative to raise awareness of Hereditary angioedema (HAE), a rare genetic disease affecting approximately 1 in 50,000 people^[¹^]. Leading European experts gathered in Milan for the event "HAELLO, WE'RE HEARE. It's not what it seems. Decode the rare", shining a spotlight on a still under-recognised condition.

The event highlighted the need to promote early recognition of a rare but not invisible disease, essential to enabling patients to access targeted treatments that can restore quality of life. To support this goal, the company also developed a motion graphic video (LINK) to help make the signs of the disease more recognisable.

Hereditary angioedema is characterised by sudden and recurrent episodes of swelling (edema), varying in severity and frequency, which can affect different parts of the body, particularly the face, hands, feet, gastrointestinal tract, and airways. In severe cases, laryngeal involvement can be life-threatening, with a risk of suffocation if not treated promptly. The disease is caused by a genetic mutation leading to a deficiency or dysfunction of the C1 inhibitor protein, resulting in excessive production of bradykinin, which is responsible for edema formation^[²^]. The condition is hereditary. If one parent is affected, there is a 50% chance of transmission^[³^]. However, in about 1 in 4 cases, it occurs without a family history^[³^], making recognition even more challenging.

"The unpredictability of HAE deeply impacts patients' lives, disrupting education, work and social relationships. As a hereditary condition, it also raises concerns about passing the disease on to future generations. Awareness is critical: it is the first step toward timely diagnosis" says Teresa Caballero, Head of the Hereditary Angioedema National Reference Center at Hospital Universitario La Paz in Madrid – one of Spain's three national reference centres for HAE (CSUR), alongside Hospital Universitario Vall d'Hebron and Hospital Universitario Virgen del Rocío.

Not only do symptoms usually begin in childhood or adolescence, but the disease does not end with the attacks themselves. Daily life and the ability to plan ahead may also be affected by a feeling of anxiety and uncertainty. Additionally, as symptoms resemble more common conditions, such as allergies or gastrointestinal disorders, diagnosis often comes after years, delaying access to appropriate treatment pathways and exposing patients to avoidable risks and a significant impact on quality of life.

"Because HAE is a rare condition and its symptoms often overlap with other, more common conditions – such as allergic swelling or acute abdomen – it is frequently diagnosed very late. In Germany, it still takes an average of around 10 years from the onset of symptoms to reach a correct diagnosis. During this time, patients face the risk of misdiagnosis and potentially life-threatening complications" says Markus Magerl, Professor of Dermatology and Allergy at Charité – University Hospital of Berlin.

"Hereditary angioedema is a rare disease but far from invisible for patients living with it. Its burden is twofold: physical, linked to pain and functional limitations during swelling episodes, and psychological, due to the unpredictability of attacks," explains Mauro Cancian, President of the Italian Network for Hereditary and Acquired Angioedema (ITACA). Over the past 20 years, the ability to recognize the disease has significantly improved, and so have treatment perspectives. While in the past the focus was on managing acute attacks, today, also according to international guidelines, the goal is complete disease control and normalization of patients' lives, which is made possible through long-term prophylaxis. The availability of oral treatment options, easy to administer and potentially extendable to paediatric patients, makes this goal increasingly achievable."

While therapeutic advances have opened new perspectives for patients, access to care can still be challenging. WAO/EAACI guidelines^[²^] clearly indicate the way forward: achieving disease control and improving quality of life, enabling patients to live free from the burden of unpredictability.

"Behind every diagnosis of hereditary angioedema lies a complex and often invisible journey, marked by waiting, uncertainty, and a significant impact on daily life," says Alessandro Del Bono, CEO of Neopharmed Gentili. "As a company committed to rare diseases, we aim to offer patients new perspectives through innovative therapies and by exploring new frontiers in care. At the same time, we support awareness initiatives like the one held today, which are essential to highlight unmet needs and promote more effective and informed disease management."

Increasing awareness of hereditary angioedema remains the first step to shorten diagnostic timelines and guide patients to specialised centres. On the occasion of HAE Day, awareness initiatives are planned across Europe. When it comes to HAE, things are not often what they seem and recognising the condition in time can change lives.

References

^[1] Bork K, Anderson JT, Caballero T et al. Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report. Allergy Asthma Clin Immunol. 2021 Apr 19;17(1):40. doi: 10.1186/s13223-021-00537-2. PMID: 33875020; PMCID: PMC8056543. 
https://pmc.ncbi.nlm.nih.gov/articles/PMC8056543/

^[2] Maurer M, Magerl M, Betschel S et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update. Allergy. 2022 Jan 10. doi: 10.1111/all.15214. Epub ahead of print. PMID: 35006617. https://onlinelibrary.wiley.com/doi/10.1111/all.15214

^[3] Zuraw 2010: Zuraw BL. The pathophysiology of hereditary angioedema. World Allergy Organ J. 2010 Sep;3(9 Suppl):S25-8. doi: 10.1097/WOX.0b013e3181f3f21c. PMID: 23282866; PMCID: PMC3666152.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666152/ 

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EU.HAE.00251 Date of preparation: May 2026

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