European AATD Day
On European AATD Day, we seek to raise awareness about this rare disease, recognized as a respiratory illness.
In line with one of the fundamental objectives of physicians specializing in pulmonology, as well as other complementary specialties, it seeks to disseminate scientific knowledge to support clinical practice.
What is Alpha 1 protein?
The protein alpha-1 antitrypsin (AAT) is produced in the liver to help protect the lungs.
Also, AATD is a hereditary genetic condition that, depending on genetic and external factors, predisposes adults to develop emphysema and various liver diseases in both children and adults.
Currently, it is estimated that approximately 14,500 people suffer from the most severe form of the deficiency, with a low percentage of those diagnosed.
Associated pathologies
In addition to the associated pathologies, the affected person’s lungs are more easily damaged by smoking and the pollution and/or dust in their environment.
Although there is no cure for AAT deficiency, there are several treatment options available to delay the damage the disease causes to the lungs. Treatment adherence is one of the most important interventions nursing professionals can perform and most helpful in controlling the disease.
Relationship between AAT patients and professionals
The nursing team is essential in the care and monitoring of patients with respiratory pathologies, serving as a point of reference for the patient, family members, and caregivers.
The goal is to ensure proper use and management of the various therapeutic devices available, which improve the quality of life of people with these types of pathologies.
First contact with AAT patients
Primary prevention, carried out by this team, is vitally important in preventing smoking, whose consumption, even minimal, is harmful and is linked to a wide variety of respiratory diseases.
That is why, both smoking prevention and cessation are essential measures for people with AATD, since not smoking is the only way to avoid complications such as chronic obstructive pulmonary disease (COPD).
On the other hand, secondary prevention is essential for early diagnosis, which, together with appropriate treatment, can help avoid complications.
European AAT Day, for quality care
How is it treated?
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by low serum levels of alpha-1 antitrypsin (AAT) and may predispose to the development of
However, other diseases, the most common being liver disease in children and adults and chronic obstructive pulmonary disease (COPD) in early adulthood, although it can also affect other organs, causing disorders such as vasculitis, panniculitis, etc.
Therefore, AATD is not a disease in itself; it is a chromosomal abnormality that will accompany the person throughout their life.
Severe AATD, along with other external factors, can precipitate the development of other pathologies, hence the importance of early diagnosis.
Diagnosis
Early diagnosis of AATD allows for close monitoring of health status, lifestyle changes, and minimization of other triggering factors for associated diseases, thereby preventing or delaying their development.
However, it is currently underdiagnosed, and diagnosis is usually made based on complementary studies for already established respiratory or liver pathologies.
Due to its low prevalence, AATD is considered a rare disease.
The lack of awareness of this pathology in the healthcare setting, coupled with the variability of symptoms it can manifest with depending on the organ affected.
It means that often leads to delayed diagnosis, which has serious consequences, limits appropriate treatment, and leads to clinical worsening, irreversible sequelae, and psychosocial impact on both the patient and their family.
Once confirmed, an accurate diagnosis of the associated diseases must be made. A therapeutic approach based on a multidisciplinary healthcare team is essential for providing comprehensive and personalized care in order to provide quality healthcare.
Treatment
Actually, there is no curative treatment for this deficiency; the treatment for AATD will always be the treatment specific to the pathology it triggers.
Currently, for certain individuals with AAT-related lung disease, a specific treatment is available, consisting of intravenous AAT replacement.
The main objective of which is to maintain serum levels of this protein.
For this reason, the evolution of medicine toward patient-centered models, where patients actively participate in their journey.
It means that healthcare professionals at all levels of care assume the responsibility of empowering patients to understand and manage their health/illness.
The aim, is to make appropriate decisions in line with their personal beliefs and circumstances.
Also, offering them all the tools and options available at the time.
In this regard, the primary goal of medical professionals and the nursing team in caring for patients with AATD is to train them in disease management and complication prevention.
As well as, foster lifestyle changes and promote healthy habits, and make them a key player in both pharmacological and non-pharmacological treatment, with or without associated pathology.
The development of a personalized plan appropriate to the disease process or stage is essential.
Conclusions
We cannot ignore the fact that AATD is a rare and unknown disease.
This is often the main obstacle faced by both healthcare professionals and patients in addressing it on a daily basis.
Source: Alfa 1 España, SEPAR