Clinical features of alpha1 antitrypsin deficiency in COPD

SettingAbout 1–3% of patients with diagnosed chronic obstructive pulmonary disease (COPD) is predicted to have alpha1-antitrypsin deficiency (A1ATD).ObjectiveTo clinically evaluate and increase recognition of AATD in patients with COPD.Materials and methodsSixty COPD patients were diagnosed on the basis of clinical and pulmonary function tests. They fulfilled the inclusion criteria and divided into group (A) COPD above 40 years (30 cases) and group (B) COPD below 40 years (30 cases). All patients were subjected thorough history taking, radiological examination, blood gas analysis and quantitative measurements of serum alpha-1 antitrypsin by radio-immunoassay.ResultsMean ages of the groups A and B were (61.87 ± 6.04, 34.17 ± 2.75) respectively with (p value <0.001). The mean serum levels of alpha 1 antitrypsin in groups A and B were (185.03 ± 23.00 with only one case deficient and 177.53 ± 49.94 with only four cases deficient) respectively without statistical significance. There is significant relationship between the age of the patient and A1ATD, where in deficient patients mean age was 39.63 ± 13.66, and in normal patients mean age was 50.18 ± 12.06) with (p value 0.02). There is also significant relationship between family history and A1ATD, where in deficient patients 50% of cases (four cases) had positive family history, in contrast to 11.61% of cases (13 cases) of normal patients (p value 0.03). There is no significant difference between the deficient and normal group as regards gender distribution, smoking history, symptomatic presentations, physical signs, radiological picture, pulmonary function tests and blood gas parameters.ConclusionEmphysema at an early age, non smokers with positive family history is a clinical feature suggestive of A1ATD.