2023-09-12 18:15:11
at MGF
The campaign is underway to change the narrative of a pathology – from which around a thousand compatriots suffer – characterized by sudden swelling that can be insidious. Today, therapeutic weapons are available that can keep attacks under control
Painful edema can appear on the skin – of legs, arms, face – but the swelling can also affect mucous membranes and internal organs, becoming particularly insidious. These are the “signs” of hereditary angioedema, a rare genetic disease that affects one person in 50,000.
It is estimated that around a thousand people suffer from it in our country, who often live with anxiety and uncertainty due to the unpredictability of the disease.
Even if there is no definitive cure, the good news is that today, thanks to research, prophylactic drugs are available that can prevent the onset of symptoms and therapies to keep acute attacks under control. the message of hope launched with the awareness campaign Destination I Can – My journey with hereditary angioedema promoted by Takeda Italia with the patronage of the Voluntary Association for Hereditary Angioedema and other rare forms of angioedema (AAEE), of the network ITACA (Italian Network for Hereditary and Acquired Angioedema) and the Italian Federation of Rare Diseases LET’S UNITE. The centerpiece of the initiative is the short film Tutto il tempo del mondo with television host Enzo Miccio, who plays himself on a car journey from Milan to Rome to change the narrative of the disease.
The disease and its symptoms
Hereditary angioedema is a rare genetic disease with autosomal dominant transmission, which means that it is enough to inherit, from one of the parents, an altered copy of the responsible gene to have the disease; however, approximately 25 percent of patients present a mutation of the responsible gene “de novo” (not present in the genetic makeup of the parents).
The disease manifests itself in childhood or adolescence with transient and recurrent edemas that can affect the skin and mucous membranes in any part of the body, the gastrointestinal and respiratory systems; in the latter case the swellings affect the larynx and glottis with the risk of asphyxia and danger to life.
Angioedema attacks are painful and may be preceded by a tingling sensation; in one case out of three they are accompanied by a non-itchy skin rash which can simulate an allergy but does not respond to antihistamines or cortisone.
The diagnosis often arrives late, even 8-10 years after the first symptoms.
Therapeutic weapons available
Mauro Cancian, president of ITACA, a network of 23 Italian Centers of Excellence and director of Allergology at the University Hospital of Padua, explains: As in all rare diseases, the main critical issue is the lack of knowledge of the disease even on the part of healthcare professionals: for this reason it is necessary to promote an awareness operation also among doctors and alert them to the fact that if a patient repeatedly presents to the emergency room with painful idiopathic swellings or abdominal colic without a specific cause, it is necessary to hypothesize angioedema due to C1 deficiency. inhibitor. It is particularly important to raise awareness among paediatricians, as they can intercept patients from the first onset of symptoms, in order to reduce the significant diagnostic delay. The fact that hereditary angioedema is characterized by the unpredictability of the attacks determines a greater burden of the disease – continues the expert -. Today, fortunately, we have valid drugs available for continuous prophylaxis, which can prevent the onset of symptoms. The current therapeutic objective of angioedema is therefore to allow patients to lead a completely normal life, freeing them from the attacks and the fear of them which so negatively influence their lives.
Almost normal life
Today people with hereditary angioedema can have an almost normal life at school, at work and socially.
One of our objectives has always been to increase knowledge, which can lead to quicker diagnoses for patients with hereditary angioedema so that they have timely access to the most appropriate treatments – says Pietro Mantovano, president of the Voluntary Association for Hereditary Angioedema and others rare forms of angioedema – . Gastroenterologists, orthopedists, paediatricians, general practitioners and patients’ first contact persons must be adequately informed. We hope that, also thanks to campaigns like this, the attention towards the pathology does not end, to contribute to improving the patient’s quality of life. Serenity is given by the availability of medicines, the presence of multiple reference centers and adequate widespread knowledge among the general population and all branches of fundamental medicine.
The short film
The short film Tutto il tempo del mondo (directed by Daniele Barbiero, produced by Nicola Liguori and Tommaso Ranchino for MP Film and conceived and edited by Pro Format Comunicazione) the story of a journey by car, from Milan to Rome, born from the meeting between the TV host Enzo Miccio – who plays himself – struggling with a creative “block” and his friend Chiara, with a young actor, Gaetano, who suffers from hereditary angioedema.
Comments Miccio, testimonial of the campaign and protagonist of the short together with Ivan Boragine, who plays Gaetano: I really liked this experience and, even more, the idea behind the short: diffusion of knowledge, awareness, early diagnosis. I faced this “journey” with great interest, ready to discover a rare disease unknown to me.
The awareness campaign – adds Andrea Degiorgi, Rare Business Unit Head of Takeda Italia – represents a commitment that goes beyond the research and development of effective therapeutic alternatives that can improve the lives of patients, and aims to give voice and listen to all people living with a rare disease and those who care for them.
12 September 2023 (modified 12 September 2023 | 18:14)
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