Emphysema clinical manifestations

The major clinical manifestation of AAT deficiency is emphysema, which tends to occur at an earlier age and can occur in the absence of smoking. It is estimated that 1% of emphysema is related to AAT deficiency. In neonates, AAT deficiency is often associated with hepatitis in one study, almost one third of infants with prolonged jaundice were found to be AAT deficient. About 20% of AAT deficient infants develop hepatitis, with up to 25% 1-year mortality. In those who survive the first year, however, evidence of liver injury diminishes and usually resolves by age 12. At age 18, none of 183 individuals with AAT deficiency had clinical evidence of liver disease, none had elevated procollagen III peptide, and less than 20% had elevated liver-associated enzymes. These findings suggest that AAT may have minimal effects on pathogenesis of liver disease in adults." ... 

Clinical pharmacology Alpha-1 antitrypsin deficiency is a chronic, hereditary, usually fatal, autosomal recessive disorder in which a low concentration of alphai-proteinase inhibitor is associated with slowly progressive, severe, panacinar emphysema that most often manifests itself in the third to fourth decades of fife. The pathogenesis of development of emphysema in alpha-1 antitrypsin deficiency is believed to be due to a chronic biochemical imbalance between elastase and alphai-proteinase inhibitor (the principal inhibitor of neutrophil elastase), which is deficient in alpha-1 antitrypsin disease. As a result it is believed that alveolar structures are unprotected from chronic exposure to elastase released from a chronic low-level burden of neutrophils in the lower respiratory tract, resulting in progressive degradation... 

Air pollution is one of the worst problems caused by industries, agriculture, power stations, aerosols and other chemicals, and coal and other fires. As a result we suffer from headaches, respiratory tract infections and ailments, asthma, bronchitis, emphysema, eye problems, and eventually a profound breakdown in health manifested by various cancers. Other environmental hazards include lead from gasoline — which causes hyperactivity and birth defects — acid rain, carbon monoxide poisoning, water pollution, and radiation. Clinical ecologists treat illnesses and disorders that they believe stem from an individual s reaction to these environmental factors. They practice what is known as environmental medicine, and they estimate that between 10 and 30% of the population suffers from some form of ecological disease (Thomas, 1997 and General References). 

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