The clinical diagnosis of AATD can occur in young adults, smokers or not, with progressive dyspnea and advanced emphysema.
Others are diagnosed in older ages after years of COPD symptoms with emphysema, and others are asymptomatic and are diagnosed in family studies, epidemiological screenings or by the presence of liver disease in childhood.
Although it is the most frequent hereditary disease diagnosed in adults, the fact that it begins in such a varied way, and that only 1-2% of emphysemas present it, are some of the causes of ignorance on the part of many doctors, who forget request serum concentrations of AAT in many patients with COPD or do not know how to make the diagnosis or where or how to refer them to verify the disease.
AATD is one of the most underdiagnosed diseases
This causes a notable underdiagnosis of this genetic alteration throughout the world. In Spain an average of 10 years is calculated between the diagnosis of COPD and that of the deficit41 and in the United States of 7.2 years, and before reaching the diagnosis in 43% of the cases 3 doctors had been consulted and in one 12% to more than 642.
Spanish Patient Registry
According to current data from the Spanish Registry, some 500 patients with the ZZ phenotype have been diagnosed in our country, which represents 4% of the 12,000 cases that are estimated to exist in Spain10,43. These same percentages have been diagnosed in the United States or the United Kingdom, and only in Denmark 28% of the expected cases have been diagnosed.
The importance of early diagnosis of this genetic alteration is based on the fact that it allows a special effort to be made earlier in smoking cessation.
This is decisive in the prognosis of the disease, treating the symptoms of emphysema and exacerbations, conducting family studies to diagnose other cases early and giving genetic counseling.
Substitution treatment can also be started in cases where it is indicated.
Adult patients usually present with the usual symptoms of COPD but with earlier onset: cough, expectoration, dyspnea and frequent exacerbations, although the main symptom is progressive dyspnea.
60% of the non-smokers ZZ start the first symptoms at 40 years and 90% at 50, although smokers start the clinic earlier. Therefore, in many cases it is difficult to differentiate them from other causes of COPD if one does not think about requesting the AAT determination.
Servicio de Neumología. Hospital General Universitari Vall d’Hebron.
P.º Vall d’Hebron, 119-129. 08035 Barcelona. España.