Study helps to better understand disease caused by Alpha-1 antitrypsin deficiency

The disease consists of a production deficit of Alpha-1 antitrypsin, which is produced in the liver. The main role of this protein is to protect the lungs from degradation or inflammation caused by infections that attach lung tissue, as well as from external agents such a tobacco or pollution. From the liver, Alpha-1 antitrypsin travels to the lungs through the blood stream. However, if this transfer does not take place properly, its accumulation can cause liver diseases, as well as lung problems such as emphysema. This disease, according to the study, is under-diagnosed to the point that almost 90% of those who have it are unaware.

The article was created with the collaboration of members from the Department of Paediatrics, Obstetrics and Gynaecology, as well as Physology, of the Universitat de València, of Madrid's Carlos III Health Institute, the Vall de Hebrón hospital and Health Research Institute INCLIVA. Its goal is to help researchers and medical specialists to better understand this disease, which would facilitate research, prevent cases of erroneous diagnosis and increase treatment efficiency.

This compilation has added as a novelty a specific chapter on how this disease affects children of a paediatric age, as well as taking into account the latest research on epigenetics and biomarkers, as well as future therapeutic approaches, including research into gene editing.

Furthermore, the study also wanted to highlight the clinic efficiency of replacement therapy, which has been called into question in some countries due to the low number of clinical trials that have been carried out, which makes national health agencies not want to pay for these treatments. This forces patients to pay for their own medication.

One of the main treatment difficulties that the deficit of Alpha-1 antitrypsin raises, according to the study, is the clinical variability that patients exhibit. While some never show any symptoms throughout their lifetime, others develop symptomatology in their childhood, during puberty or when they are young adults.

For this reason, in accordance with the group that carried out the study, there is a need for biomarkers that prognosticate and facilitate the prediction of the disease's progression or its treatment. This will increase understanding of the affected molecular mechanisms.