New Guidelines for Antitrypsin Deficiency

The guidelines were published in the October 1, 2003, issue of the American Journal of Respiratory and Critical Care Medicine.

AAT is a hereditary disorder that can cause liver and lung disease, but it is frequently under-recognized and misdiagnosed by doctors, according to the new report entitled "Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency.” Under the new guidelines, doctors are urged to look for certain features that should raise their index of suspicion about the presence of this problem. These features include early onset of emphysema (age 45 or less); emphysema without the presence of other recognized risk factors such as smoking and occupational dust exposure; and a family history of emphysema, together with several other lung diseases. From a clinical standpoint, pulmonary emphysema appears to be related most prominently to the deficiency and is a major cause of disability and death.

For related liver disease, relatives with liver disease have a significant risk. Cirrhosis and carcinoma of the liver affect about 30-40% of those with AAT deficiency over the age of 50. The obstructive lung disease associated with the deficiency is treatable with general medical management. However, no specific therapy for advanced liver disease is available other than transplantation.




Related Links:
American Thoracic Society
European Respiratory Society
Alpha-1 Foundation