 | Robb Rose is Director of Marketing Operations at Wesley Rehabilitation Hospital of Wichita. Robb is also a Respiratory Therapist, Boarded Disability Analyst and Adjunct Faculty for Wichita Sate University. He holds a Masters in Human Resources from Webster University. Robb serves on the American Lung Association Regional Council and the American Heart Association Board of Directors. Robb is married and has 2 children. He can be reached at (316) 729-9999 |
Health & Rehabilitation
2004-06-01 16:14:00
Alpha 1 Antitrypsin Deficiency???
Question: My family has a history of Respiratory Diseases, and we've been hearing about a disease called Alpha 1 Antitrypsin Deficiency….what is it?
ANSWER: Often this is called "Genetic Emphysema" because the signs and symptoms are very much the same as emphysema. It is a very serious disease and is often undiagnosed. It is more common than Cystic Fibrosis with an estimated 25 million undetected individuals carrying the abnormal alpha 1 antitrypsin allele. Alpha 1 Antitrypsin is a protein made in the liver and carried in the bloodstream. Its' main function is to neutralize another protein or enzyme called neutrophil elastase (PMN) which is found in white blood corpuscles. In a normal cycle the PMN would attack bacteria in the lungs as a defense or protective mechanism, but if not inactivated or broken down by alpha 1 antitrypsin the PMN can go ahead and break down the good elastin of the lung. Without alpha 1 antitrypsin to break down the PMN the good elastin is broken down causing permanent damage in the lung similar to emphysema itself. Two possible explanations of this disease being so unknown is 1) the individual never develops symptoms, or 2) the individuals are not ever diagnosed. The following are some of the signs and symptoms; early onset of emphysema symptoms (less than 45 years of age), emphysema without traditional reasons for the disease, and unexplained liver disease. Management of the disease includes; stop smoking as it will worsen the disease, oxygen use, bronchodilator/inhaler use, use of pneumonia and influenza vaccines, pulmonary rehabilitation, and the intravenous infusion of purified alpha 1 antitrypsin protein given weekly or monthly for life.
