Respiratory decade is pleased to recognize Alpha 1 Anti-trypsin week from September 13-19, 2015.
Indeed a chance discovery by Dr. Carl Beril Laurell in 1962 revealed the absence of the Alpha-1 band in serum electrophoresis gels. Aided by further investigations by Dr. Eriksson the lack of the critical Alpha-1 anti-trypsin protein was noted in patients with emphysema.
Alpha-1 -anti-trypsin is the most prevalent potentially fatal genetic disorder of adult Caucasians in the United States, although all races can be affected. An estimated 25 million individuals carry deficient genes and over 100,000 Americans have severe Alpha-1 deficiency, but still sorry to say, less than 10% have been diagnosed. In contrast, other important respiratory diseases like cystic fibrosis affect 30,000 and idiopathic pulmonary fibrosis 128,000 patients. While effective treatment is available, much more research is needed to help patients with this condition and to cure it.
Patients and physicians should be aware of the clinical pulmonary presentations of A1A deficiency.
From two patient registries, 54% had emphysema, 72% had respiratory symptoms, 45% had chronic bronchitis and 35% have a diagnosis of asthma. Also, another important respiratory disease chronic bronchiectasis can occur in this population. It is extremely important to do testing for A1A deficiency because the clinical presentation does not distinguish A1A deficiency from typical non genetic types of COPD.
Alpha-1 anti-trypsin deficiency is an imbalance of neutrophil elastase, an important enzyme released in the lung and the protein A1A which provides protection from the elastase and prevents it from injuring the lung. Prescreening for A1A deficiency is available from a number of providers. The A1A Foundation provides free kits for testing which can be sent to either the A1A testing center at the University of Florida or the Alpha-1 Registry at Medical University of South Carolina. Please remember that the disease, A1A deficiency can affect all ages ranging from severe biliary disease in children to emphysema, bronchiectasis, and chronic liver disease in adults. It is an extremely important disease that has the potential for treatment with replacement therapy for lung disease and exciting new therapies are being tested for liver involvement. Hence, it is imperative to know your diagnosis and be informed as much as possible about your condition.