AATD patients

AATD patients

Alpha-1 antitrypsin deficiency (AATD) is estimated to affect 1 in 2,500 people.

In Spain, an estimated 14,500 people suffer from the most severe form of the deficiency, but only a small percentage are diagnosed.

Generally speaking, people with AATD may not develop associated pathologies; however, early diagnosis, in addition to avoiding high-risk factors, such as smoking, could make the difference between developing lung disease and not developing lung disease.

What is AATD?

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by low serum levels of alpha-1 antitrypsin (AAT).

In general, this condition can lead to the development of other diseases, the most common being liver disease in children and adults and chronic obstructive pulmonary disease (COPD) in early adulthood.

Alternatively, it can also affect other organs, causing disorders such as vasculitis, panniculitis, etc.

AATD is not a disease in itself; it is a chromosomal abnormality that will accompany a person throughout their life.

In its most severe form, when combined with other external factors, it can precipitate the development of other pathologies, hence the importance of early diagnosis.

Specifically, young non-smokers and asthmatics who experience dyspnea and altered lung function tests, as well as smokers with impaired lung function.

In short, AATD is one of the most underdiagnosed diseases, and can lead to other respiratory diseases such as COPD, cirrhosis, and even worsening of symptoms.

Furthermore, this condition alone is usually not sufficient to develop the disease; other genetic and environmental factors must be present, hence the importance of early diagnosis.

Relationship between AATD patients and professionals

After being diagnosed with alpha-1 antitrypsin deficiency (AATD), affected individuals and their families face a disease unknown to the general public and healthcare professionals: a genetic disorder with no cure, which could lead to other health problems, and which other family members may also suffer from.

In conclusion, all of this generates fear and emotional stress for the individual and their loved ones.

For this reason, it is important to establish a bond between patient and healthcare provider, reinforced by empathy, understanding, and emotional support.

First AATD Patient Observatory

Last month, the Alfa-1 Spain Association launched a very interesting initiative to conduct continuous and systematic monitoring of people with this rare genetic condition.

It will also serve to collect data on the disease, perceptions of it, the physical and mental well-being of those who suffer from it, and their level of satisfaction with the medical care they receive.

These are patient-targeted surveys conducted by the Observatory of Patients with Alpha-1 Antitrypsin Deficiency (AATD), in collaboration with the Share4Rare platform of the Sant Joan de Déu Foundation.

This survey is structured into three thematic sections.

• The first block includes questions related to demographic and general information about AATD.
• The second block contains questions about perceptions of well-being and the care received.
• Finally, the third block asks about diagnosed pathologies, the disease, and perceptions of the disease.

It is important to know that to access this first survey, you must be previously registered on the Share4rare platform. Registration must be completed through THIS LINK.

Registered patients can access the questionnaires in the “My Studies/AATD Patient Observatory” section of the Share4rare website once registered.

The Association will address any questions about the process by emailing info@alfa1.org.es or by WhatsApp at 624 16 97 20 (10 a.m. to 2 p.m.).

Responding to the first part of the survey takes just twenty minutes.

The information provided is completely confidential.

Information of interest

Completing this survey is extremely important for medical professionals seeking to improve patient care, improve communication with other professionals, and expedite diagnosis.

This is because there is a significant lack of information about the real impact of Alpha-1 Antitrypsin Deficiency on the daily lives of those who suffer from it, which hinders the improvement of medical care and the development of strategies tailored to their needs. To address this data gap, Alpha-1, in collaboration with Share4Rare, is opening the Observatory to patient contributions.

AATD patients

How can you help us?

Participation in the study involves completing three periodic questionnaires (the next will be sent to those registered within six months). This process will be repeated over a period of three years.

The information collected will be analyzed to better understand patients’ specific needs and raise awareness of the disease in the scientific and medical community.

Furthermore, it will contribute to greater public awareness of AATD and foster greater awareness among healthcare professionals about the challenges patients face.

A scientific committee composed of pulmonologists and researchers with expertise in AATD supports the initiative.

This group includes experts such as:

• Francisco Dasí (Incliva-Universitat de València)
• María Torres Durán (Alvaro Cunqueiro Hospital in Vigo)
• José María Hernández Pérez (Our Lady of Candelaria University Hospital, Santa Cruz de Tenerife).

58th National Congress of SEPAR

SEPAR is constantly organizing events for respiratory patients and medical professionals specializing in pulmonology.

In this case, it will be a participatory and dynamic forum, where patients, patient associations, and respiratory health professionals will be present to debate and reflect on topics of interest to all.

Bilbao will host the 58th National Congress of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) from June 12 to 14, 2025, the leading event for respiratory professionals and patients. In this context, the 8th Forum for Patients with Respiratory Diseases “Breathing Together” will be held on Thursday, June 12, organized by the SEPAR Patients Committee.

This forum is a unique opportunity to share knowledge, discuss advances in the treatment of respiratory diseases, and foster support between patients, their families, and healthcare professionals.

The 8th SEPAR Patient Forum begins on Thursday with sessions on:

The importance of sleep in respiratory diseases:

• Biological Treatments
• Sexuality in Patients
• Innovations in Interventional Therapies
• In the afternoon, the program will offer a series of practical workshops on physiotherapy, oxygen therapy, and psychological support.
• The day will conclude with the presentation of awards to the best posters presented at the event and to the winners of the 6th SEPAR Patients Short Story Competition.

Registration and participation

We encourage Alfa-1 Spain members to register and participate in this forum. This is an exceptional opportunity to learn, share experiences, and strengthen the community of patients with respiratory diseases. For more information and to register, please visit the official event website.

Sources: Alfa 1 España, SEPAR