TY - JOUR T1 - Deficit of alpha-1-antitrypsin: Null allele JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2015.PA825 VL - 46 IS - suppl 59 SP - PA825 AU - Maria João Oliveira AU - Inês Ladeira AU - Miguel Guimarães AU - Ricardo Lima Y1 - 2015/09/01 UR - http://erj.ersjournals.com/content/46/suppl_59/PA825.abstract N2 - Introduction: The deficit of alpha-1-antitrypsin (AAT) is a rare genetic disorder that predisposes to chronic obstructive pulmonary disease (COPD). Are described about 100 genetic variants. Null alleles characterized by producing less than 1% normal AAT provide these individuals a high risk of developing pulmonary disease at young age.Case description: 41 year old man, former smoker (18PPY), with controlled COPD Gold C. Physical examination with no significant changes. Additional exams: respiratory functional study revealed a very severe lung obstruction (tiffeneau index 41%; FEV1 31%; FVC 70%); Gasometry with hypoxemia; Diffusing capacity for carbon monoxide (DCCM) 45%; chest tomography with diffuse emphysema; AAT assay of 22.2mg/dl (phenotype Z and genotype ZQ0). After multidisciplinar meeting, the patient was proposed for replacement therapy. Although understand his clinical picture, he refused it because hadn't availability for a regular hospital treatment.Discussion: In this case report, we present a young patient with severe pulmonary disease. In this man, a former smoker and therefore, a patient with an important risk factor for COPD, the identification of AAT deficit was essential. This patient has an increased risk of serious illness, because he has two alleles associated with risk of disease. The Z allele is a dysfunctional allele (low secretion of AAT) and the null allele characterized by AAT production of almost zero. The null allele is due to amino acid replacement Leuc263-Pro, this mutation has not been described previously. This case report serves, not only to present a new null allele of disease and its risk, as well as the implications that the treatment can have, making the patient take the decision not to be treated. ER -