Without research there is no cure

Without research there is no cure, and the proof of this is that since writing about this disease began, it has evolved a lot.

DAAT was first described in 1963 by Carl-Bertil Laurell (1919–2001), at the University of Lund, Sweden, 1 together with resident physician Sten Eriksson, made the discovery after noting the absence of the band. α1 in protein electrophoresis in 5 of 1500 samples; three of the five patients developed emphysema.

Whithout research there is no cure

 AATD was first described in 1963 by Carl-Bertil Laurell (1919–2001), in the Lund University, Sweden, 1 together with resident physician Sten Eriksson made the discovery after noting the absence of the α1 band in electrophoresis of proteins in 5 of 1500 samples; three of the five patients developed emphysema.

Alpha 1 patient study helps us move forward

Childhood and adolescence

At the beginning of this disease, the main threat to the patient is the possibility of developing a homeopathy.
Although after carrying out a study carried out with the help of 103 PiZZ adolescents, diagnosed in a neonatal screening, no differences were found in lung function tests compared to a control group of the same age 17.

Patients in their 20´s

From the second decade of life its natural history is less known. This is due, among other reasons, to the Difficulty drawing conclusions from studies that are different in design and / or in terms of the selected populations.

Behavioral and environmental aspects

Much of the segmentation of smokers, ex-smokers and non-smokers has revealed that the effects of other risk factors on lung function can be hidden.

More recent studies conducted on non-smoking PiZZ individuals indicate that exposure to kerosene home heating, agricultural occupations, a history of occupational exposure to respiratory irritants, the presence of wheezing, and recurrent respiratory infections and Pneumonia is associated with significantly more impaired lung function.

Respiratory Volume

In respiratory physiology, the respiratory volume per minute is an important parameter in respiratory medicine, due to its relationship with blood levels of carbon dioxide.
The fall in forced expiratory volume in the first second (FEV 1) in a sample of Alpha patients without replacement therapy (index and non-index cases).

* The data are more discordant in terms of the results obtained according to the FEV value.

In all these studies the annual fall in FEV 1 is greater among smokers and is significantly reduced in former smokers 16,20-22.

On the other hand, it does not manage to match what happens in COPD individuals who are ex-smokers without AATAD, in whom the fall in FEV 1 reaches values similar to those observed in non-smokers (30 ml / year).

Genetic Evolution

At the same time, there are recent studies that indicate the existence of genetic mutations that could modify the natural history of PiZZ subjects.

A significant increase in a polymorphism in the endothelial nitric oxide synthase gene (C774T) has been demonstrated in PiZZ individuals with FEV 1 <35% 28.

Rodríguez et al 29 found an increase in the frequency of polymorphisms in glutathione S-transferase P1 (GST P1-105Val) in patients with AAT deficiency that, together with age and smoking, would explain 41% of the FEV 1 variability found in these patients.


Tobacco is the key element in the natural history of patients with AAT deficiency.

The decline in FEV1 and mortality are directly influenced by the amount of tobacco consumed. Patients who quit smoking are able to reduce the fall in FEV1, but it does not reach the normal levels detected in non-deficient individuals.

Documentary source: https://www.archbronconeumol.org/es-diagnostico-tratamiento-del-deficit-alfa-1-antitripsina-articulo-13095974

Centro Andaluz Alfa-1