Angioedema, video diary tells the patient's journey in real life

A young and dynamic science communicator and a logbook that tells the story of hereditary angioedema, a rare disease that significantly impacts quality of life, in a journey that takes place along the diagnostic-therapeutic pathway, from the reference centers for diagnosis and treatment, towards new perspectives. Thus Takeda Italia, after inaugurating a new narrative of the disease with 'Destinazione posso: il mio viaggio con l'angioedema greca', continues the exploration of the rare disease from a new perspective with 'Angioedema Real Life', an awareness campaign promoted with the patronage of Aaee Aps Ets, Voluntary Association for Hereditary Angioedema and Other Rare Forms of Angioedema, Itaca, Italian Network for Hereditary and Acquired Angioedema, Siaaic, Italian Society of Allergology, Asthma and Clinical Immunology, Siaip, Italian Society of Allergology and Pediatric Immunology, and Aaiito, Association of Italian Territorial and Hospital Allergists and Immunologists.

Hereditary angioedema - we read in a note - is not just the swelling, the attack, the crisis, but everything that happens and forces you to put your life on hold. Making this disease known is the first step to shorten diagnosis times and direct patients to Itaca reference centers for structured, competent, multidisciplinary and continuous care. But "to find yourself you have to look for yourself", is the spirit that animates Ruggero Rollini's journey, which goes to discover the 'real-life' of the pathology, providing a detailed picture of the 'patient journey', the path of those who live with it through an unprecedented digital format: a docu-vlog, the heart of the campaign, a real video-diary in 6 episodes in which the protagonist, step by step, collects experiences, testimonies, clinical data to learn about, recognize and describe hereditary angioedema and deal with it in the best way with the support of the Itaca network, a national reference for the diagnosis, care and management of hereditary angioedema.

Hereditary angioedema (HAE) is a rare genetic disease - although in 1 in 4 cases (25%) the disease develops from a de novo mutation, not present in any other member of the family - that affects one person in 50 thousand. The defective gene that causes the disease codes for the protein C1 esterase inhibitor (C1-Inh or C1 inhibitor) which is produced in insufficient quantities (and in this case we speak of HAE type 1, which affects 85% of cases), or in a form incapable of functioning as it should (HAE type 2, 15% of diagnoses). Symptoms appear during childhood or adolescence with episodes of transitory, but recurring swelling (edema) that can affect the skin of any part of the body, in particular the hands, feet, face, gastrointestinal tract and upper airways with edema of the larynx and glottis, potentially fatal if not treated promptly with appropriate treatments.

Attacks are periodic and unpredictable and vary greatly in severity and frequency. Diagnosis is almost always late, 8 to 10 years after the onset of symptoms, because the signs and symptoms resemble those of more frequent diseases such as allergies and colitis. According to the International Consensus Algorithm for the Diagnosis, Therapy and Management of HAE, 2010, a diagnosis of HAE should be suspected in the presence of: recurrent angioedema without urticaria; angioedema that does not respond to antihistamines and/or corticosteroids and that lasts for more than 48 hours; laryngeal edema; family history or diagnosis of HAE.

"To speed up the diagnosis, specialists with different and multidisciplinary skills are essential, skills and expertise made available in the Itaca centers now spread throughout the country - says Mauro Cancian, president of the Itaca association and director of the Uosd of Allergology at the Hospital-University of Padua - Itaca is the network that brings together the 26 Italian centers, to which another will soon be added, which in Italy have recognized expertise in the field of this pathology and are in turn authorized by national and regional regulatory bodies to diagnose and prescribe drugs for hereditary angioedema. In order to improve the diagnostic quality, which only in some cases also requires genetic screening, Itaca has decided to unify all genetic analyses at a single center precisely to guarantee high laboratory quality. Among our activities, we propose conferences at local, national and even international level and we promote the 'Angioedema Academy', training courses for young specialists in the treatment of this rare disease".

In the Itaca Registry, which currently includes over a thousand patients with hereditary angioedema, patients can enter, from the computer, data relating to their attacks, comorbidities and clinical history and, since last May 16, the date of Angioedema Day, they can also register via a dedicated mobile App that Itaca makes available to them.

Some studies indicate that, compared to the general population, people with hereditary angioedema are more likely to suffer from depression and negative moods. In addition, there is always the worry of being a burden to the family and partner and the fear of passing the disease on to their children. However, much has changed in the scenario for patients. It is a "sneaky, annoying and debilitating disease that, due to its characteristics, can prevent or severely limit normal daily activities - explains Pietro Mantovano, president of Aaee - The patient lives in a state of constant anxiety and stress waiting for the acute attack to suddenly occur. The disease has a significant impact both physically and psychologically, disrupting the daily life of the patient and the family. Fortunately, thanks to research and the network of Itaca centers, today the situation has improved, numerous drugs are available and specialists tend to implement long-term prophylaxis with innovative therapies, which allow to limit or even prevent attacks, allowing patients to plan their daily life without the fear of a new episode, with a better quality of life and greater serenity".

The therapeutic approach to patients with hereditary angioedema has evolved over the last decades from the exclusive therapy of the most dangerous acute attacks to therapies capable of preventing them. Thanks to research, specialized centers and the Itaca Network Registry, clinicians and patients today have many more tools for long-term management. There are still some critical issues to be addressed, including bringing to light cases that have not yet been diagnosed, timely diagnosis and access to care, which is not always fair and available in all Italian regions and, finally, the dissemination of knowledge.

"With 'Angioedema Real Life' we want to give visibility to a complex and often invisible journey: that of those who live with a rare disease, such as hereditary angioedema - says Laura Nocerino, Rare Business Unit Head Takeda Italia - Telling the patient journey with new languages, combining voices and skills, brings the patient experience closer, highlighting the value of appropriate treatment paths and the importance of a support network, to which Takeda actively contributes. Not only through innovative therapies, to offer patients of all ages new perspectives and an increasingly personalized approach, but also by committing to overcome the barriers that still hinder the diagnosis, treatment and management of the disease. Only through effective communication and targeted collaboration can we transform knowledge into action, building concrete solutions for those who live with this condition and for their families". The heart of 'Angioedema Real Life. Logbook, direction Itaca' is the website angioedemareallife.it. The campaign vlog will be promoted on Instagram and Facebook and the episodes published on the YouTube channel of the Aaee association.