Deficit alfa 1 antitripsina e rischio intermedio: il caso di un eterozigote per l'allele MWurzburg.

Alpha 1 antitrypsin deficiency is responsible for various respiratory diseases in homozygous patients with severe protein deficiency. Sometimes the pulmonary impairment is found even in patients with intermediate deficit, with heterozygous condition. We describe the case of a woman with chronic obstructive pulmonary disease and emphysema with frequent exacerbations for over 10 years. After a diagnostic assessment, the woman with rare heterozygous mutation was treated with augmentation therapy obtaining a clinical and functional improvement. Early diagnosis in these patients is therefore essential to avoid exposure to smoking or to provide additional motivation for cessation to reduce the risk of lung damage. [ABSTRACT FROM AUTHOR]