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HAELLO, WE’RE HEARE - It’s not what it seems. Decode the rare
Sudden swelling and severe pain: when it’s not an allergy, but hereditary angioedema
Ahead of World HAE Day, an event in Milan bringing together experts from across Europe and patients to raise awareness of the diagnosis and treatment of a rare, but not invisible, disease. Around 1,300 patients diagnosed in Italy.
Milan, May 13, – Sudden swelling, intense pain, no warning. Hereditary angioedema (HAE) occurs unpredictably. Often mistaken for a simple allergy when it affects the face and hands, or for stress and gastrointestinal disorders when it involves the abdomen, these attacks conceal a much more complex reality: HAE is a rare genetic disease affecting approximately 1 in 50,000 people¹. Because its symptoms “mimic” far more common conditions, 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.
This burden is even greater considering that symptoms begin early in childhood and adolescence, and that the disease does not end with the attacks themselves. Daily life and the ability to plan ahead is also affected by the constant anxiety of uncertainty: not knowing when, where, or how severe the next episode will be.
To raise awareness, during the week of HAE Day (May 16), leading Italian and European experts gathered in Milan for the event “HAELLO, WE’RE HEARE. It’s not what it seems. Decode the rare”, promoted by BioCryst Ireland, a Neopharmed Gentili company.
The title of the initiative highlights the need to promote early recognition of a rare but not invisible disease, essential to enable patients to access targeted treatments that can restore quality of life and greater confidence in daily life. To support this goal, a motion graphic video (link) was also developed to help make the signs of the disease more recognizable. Today, around 1,300 patients in Italy have been diagnosed with HAE and can rely on a network of 27 reference centres across the country, providing specialized, multidisciplinary care.
Hereditary angioedema is characterized 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 formation². The condition is hereditary: if one parent is affected, there is a 50% chance of transmission³. However, in about 1 in 4 cases, it occurs without a family history3, making recognition even more challenging.
“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 specialized centres. On the occasion of HAE Day, awareness initiatives are planned across Europe. In Italy, the ITACA network and the A.A.E.E. patient association are promoting open days at the reference centres, accessible to patients, families, and those who suspect they may be affected. Because when it comes to HAE, it is often not what it seems and recognizing the condition in time can change lives.