Hereditary angioedema: the ‘patient card’ arrives to intervene quickly
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Swellings that can affect the skin, face, genitals, the wall of the gastrointestinal tract and even the glottis. This is how thehereditary angioedema, a rare disease resulting from a genetic mutation resulting in C1 inhibitor deficiency. Today there are increasingly effective drugs capable of combating this serious rare disease, provided that the diagnosis is early and correct. A need brought to the fore today in the Chamber of Deputies where, in the presence of institutions, clinicians and patients, it emerged that currently in Italy more than 100 cases have been identified with new forms of genetic mutations, additional to the traditional ones. During the event, the initiatives to be held on May 20 on the occasion of Angioedema Day promoted by ITACA (Italian Network for Hereditary and Acquired Angioedema) were presented with the slogan ‘Knowledge is not rare’.
Pain and limitations in daily life
The swellings that occur on the body cause patients pain and even a temporary inability to carry out normal activities. Edema of the gastrointestinal wall, for example, can cause bloating and colic-like abdominal pain, sometimes associated with vomiting and/or diarrhea. Glottic edema is considered a medical emergency as it can lead to complete obstruction.
“The pathology affects over 1,000 men and women in Italy and is caused by the lack of a plasma protein or by the malfunctioning of a certain enzyme”, he says Mauro Cancian, President Itaca and Director of Allergology of the University Hospital of Padua. “It manifests itself through the appearance of swelling on the skin, mucous membranes and internal organs and if it is not treated adequately it can even be fatal. At the moment it is underestimated by the population and sometimes even by medical personnel. So there is need more information”.
The new variants of the pathology
The emergence of over 100 cases with new forms of genetic mutations makes it clear that this pathology requires ever greater technical skills and highly specialized medical-health personnel. In Italy, for several years, ITACA has brought together the activities of 23 centers specialized in the fight against the disease. “Faced with the new variants of the pathology, it is essential to have a network like ITACA to face the challenge of intercepting more and more patients”, he reiterates Francis Arcoleo, Secretary ITACA. We have centralized all genetic analyzes in a single laboratory in Foggia. We can thus guarantee appropriate diagnoses throughout the country”.
Therapies to prevent or control attacks
All patients diagnosed with angioedema should have the medications needed to treat attacks available at home. Furthermore, if the attack is localized to the larynx, hospitalization in a health facility where intervention aids are available in case of progression of the manifestation to respiratory insufficiency is recommended.
“The drugs are available for prophylaxis and thus prevent attacks of the disease – he underlines Andrea Zanichelli, Vice President ITACA. Other therapies, on the other hand, act against single acute episodes which can cause even fatal suffocations. With the various treatments we set ourselves the goal of freeing the patient from the disease, guaranteeing him a good quality of life. This is the new paradigm at the basis of the fight against all rare pathologies as well as what they have established in the World Guidelines on hereditary angioedema”. The institutional top management of ITACA also participated in the drafting of this document, demonstrating the fundamental role of Italy in the fight against disease.
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Initiatives for awareness day
In the 23 Centers of the Itaca Network, initiatives will be held for Angioedema Day on 20 May. The Association of Patients with Angioedema (AAEE) will also participate. On this occasion, the “Patient Card” will be launched, a new IT tool with all the patient’s personal clinical data. Through a QR CODE, general practitioners or Emergency Department personnel can access a section of the Ithaca web portal from which to have all the correct information on how to intervene in the event of an acute attack of the rare pathology. “Angioedema for a non-specialist doctor can be mistaken for a severe allergy – he adds Cancian. There is a risk of receiving ineffective therapies while, if you know the diagnosis, you can treat it effectively.”
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Open day on May 20th
During the day of May 20, patients will be able to go to the specialized health facilities of the Itaca network for a check-up or for a first contact with the specialists. “Access to therapies and more generally to reference centers is one of the main problems for men and women affected by a rare disease – he concludes Peter Mantua, President AAEE. Hence the need for an open day to allow everyone to get in touch, perhaps for the first time, with the Itaca network. The latter represents one of the many excellences of our national health system and must be more valued and promoted”.
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