Evidence shows that smoking significantly increases the risk and severity of emphysema in AAT-deficient individuals and may decrease their life span by as much as ten years. For more than three years, the AAT Deficiency Detection Center at the University of Utah has been providing a convenient, reliable way to help screen individuals for AAT deficiency. The detection center is especially interested in receiving samples from brothers and sisters of patients with known AAT deficiency, since these individuals have a 25 percent risk of also having the deficiency. In December 1987, the first specific treatment for A1AD related emphysema was approved. Although it is expected that replacement therapy will slow the course of the disease, long-term studies of replacement therapy are not yet available.
Preliminary findings are encouraging.
The replacement therapy is derived from human plasma that has been screened and tested for viral markers. During the manufacturing process the product is heat-treated to minimize the risk of viral transmission. Therapy must be taken throughout a patient's life for its protective effect. Replacement therapy is intended only for AAT deficient patients who have begun to show symptoms of emphysema. It is not recommended for those without AAT deficiency who develop emphysema as a result of cigarette smoking or other environmental factors.