Sudden swelling and intense pain: how to tell if it is hereditary angioedema
Spotlight on a rare disease on which there is still a need to raise awareness about diagnosis and treatment
Key points
Sudden swelling and intense pain: hereditary angioedema (Hae) strikes unpredictably. Often confused with a trivial allergy when the symptoms affect the face and hands, or with stress and intestinal disorders when they affect the abdomen, these attacks conceal a much more complex reality: Hae is a rare genetic disease that affects about 1 in every 50,000 people. Precisely because its symptoms mimic much more common conditions, the diagnosis often comes years later, delaying access to appropriate treatment and exposing patients to avoidable risks and a major impact on quality of life.
Growing Awareness of Disease
To raise awareness about the disease, in the week of World Hereditary AngioEdema Day (16 May), leading Italian and European experts gathered in Milan for the event 'HAEllo, we're HAEre. It's not what it seems. Decode the rare', promoted by BioCryst Ireland, a company of Neopharmed Gentili. The burden of this disease is even greater when one considers that symptoms appear as early as childhood and adolescence and the condition does not end with attacks. Also conditioning daily life and the possibility of making plans is the constant anxiety of uncertainty, the experts analyse: not knowing when, where and with what intensity the next episode will occur. Hence the need to encourage early recognition, a crucial step in enabling patients to access targeted treatments capable of restoring quality of life and greater serenity in everyday life. With this objective in mind, a motion graphic video was also created to make the signs of the disease more recognisable.
The diagnosis and how it manifests itself
Today, about 1,300 patients in Italy have been diagnosed with Hae and can count on a network of 27 reference centres distributed throughout the country for specialised and multidisciplinary care. Hereditary angioedema manifests itself with sudden and recurrent episodes of swelling (oedema), of varying intensity and frequency, which can affect different parts of the body, particularly the face, hands, feet, gastrointestinal system and respiratory tract. In the most severe cases, involvement of the larynx can be potentially fatal, with a risk of suffocation if action is not taken promptly. Underlying the disease is a genetic mutation that leads to a deficiency or malfunction of the C1-inhibitor protein, resulting in excessive production of bradykinin, which is responsible for oedema formation. The disease is hereditary: if one parent is affected, the risk of transmission to offspring is 50%. However, in about 1 in 4 cases, it also appears without a family history, making recognition even more complex.
Treatments for complete control of the disease
"Hereditary angioedema is a rare disease but far from invisible for sufferers. Its burden is twofold: physical, linked to the pain and functional limitation during episodes of oedema, and psychological, linked to the unpredictability of attacks,' explains Mauro Cancian, President Itaca, Italian Network for Hereditary and Acquired Angioedema. 'The diagnosis is confirmed with specific examinations, but the real challenge is to anticipate it: to think of Hae when faced with recurrent episodes of swelling or abdominal pain without an obvious cause, and to avoid confusing it with allergies or other conditions. Over the last twenty years, the ability to recognise the disease has grown significantly and, in parallel, the outlook for treatment has changed: whereas in the past the aim was to manage attacks, today, as the Guidelines also indicate, we aim at complete control of the disease and normalisation of patients' lives, made possible by long-term prophylaxis. The availability of therapeutic options, including oral ones, which are easy to take and with prospects of extension to paediatric age, makes this goal increasingly concrete'.
