The emphysema associated with the inherited serum deficiency of alpha 1-antitrypsin appears to result from an imbalance between neutrophil elastase and its major inhibitor within the alveolar structures. In the present study we assessed the feasibility of reversing this biochemical defect within the lung via parenteral replacement therapy with an alpha 1-antitrypsin concentrate of normal plasma...

Individuals with α 1 -antitrypsin deficiency have increased elastase activity resulting in continuous degradation of elastin and early onset chronic obstructive pulmonary disease. Increased may also affect elastic properties the heart, which impact risk heart failure. We tested hypothesis that is associated failure two large populations. In a nationwide nested study 2209 patients 21 869 control...

Department of Biostatistics and Epidemiology, Cleveland Clinic Foundation, Cleveland, Ohio; Department of Pulmonary and Critical Care Medicine, Cleveland Clinic Foundation, Cleveland, Ohio; Department of Pulmonary and Critical Care Medicine, Oregon Health Sciences University, Portland, Oregon; Division of Pulmonary and Critical Care Medicine, The New York Hospital/Cornell University, New York, ...

BACKGROUND/AIMS Alpha-1 antitrypsin deficiency causes accumulation of mutant alpha-1 antitrypsin molecules in hepatocytes, and is attributed to severe liver injury even in heterozygous state. However, there is a question as to whether alpha-1 antitrypsin deficiency is only a cause of liver injury or has a worsening effect on the underlying liver disease. We aimed to determine the role of alpha-...

Alpha1-antitrypsin deficiency is a genetic disorder which contributes to the development of chronic obstructive pulmonary disease, bronchiectasis, liver cirrhosis and panniculitis. The discovery of alpha1-antitrypsin and its function as an antiprotease led to the protease-antiprotease hypothesis, which goes some way to explaining the pathogenesis of emphysema. This article will review the clini...

One hundred and eighty five consecutive liver biopsies were immunostained using anti-alpha-1-antitrypsin to assess the use of routine immunohistochemistry in the diagnosis of alpha-1-antitrypsin (AAT) deficiency. About half the livers showed staining of hepatocytes for alpha-1-antitrypsin, but most of these livers showed a panlobular pattern, possibly indicating increased synthesis of AAT. Only...

Most patients with alpha1 antitrypsin deficiency do not receive this diagnosis until developing severe complications, in particular when respiratory symptoms are absent. This is a reason for making alpha1 antitrypsin deficiency a possible diagnosis among patients with cryptogenic cirrhosis or other conditions of liver disease without a clear etiology. In this report, a case of cryptogenic cirrh...