There is a general lack of awareness about Alpha-1 in the population at large, as well as among members of the medical community. Studies have shown that, once a patient with Alpha-1 develops symptoms, it takes an average of seven years and visits to three to five different doctors before the diagnosis of Alpha-1 is made. Because diseases associated with Alpha-1, such as Obstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. More and Cirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation More of the liver, can occur even in those without Alpha-1 and are often identified as being “self-inflicted” by cigarette smoking and alcohol abuse, the diagnosis of Alpha-1 is frequently overlooked.
Alpha-1 is often viewed as an extremely rare condition. In reality, it is among the most common genetic conditions affecting individuals in the United States and Europe, and it is seen in virtually all populations worldwide. In the United States, it is estimated that approximately 100,000 individuals have a severe deficiency of this important protein, while more than 20 million Americans are An Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More of a single abnormal alpha-1 antitrypsin More gene. A similar number of people is believed to be affected in Europe. The vast majority of individuals with Alpha-1 and An Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. More of a single abnormal alpha-1 antitrypsin More gene remain undiagnosed throughout the world.Big Fat Reference Guide – AlphaNet
Alpha-1 antitrypsin deficiency (A1AD) is a disorder that occurs most frequently in Americans of Northern or Central European descent, affecting approximately 100,000 Americans. However, because most cases of A1AD go unrecognized, the disorder is very much under-diagnosed. Estimates suggest that only 10% or fewer of these estimated 100,000 individuals with severe deficiency of A1AT have been diagnosed, with the others either having A condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More obstructive Medical term referring to the lungs. More disease (COPD) that has not been recognized to be on the basis of A1AD or being unaffected. Several lines of evidence show that A1AD is under-recognized: 1. Many A1AD individuals experience long delays (i.e., mean of 5 – 8 years) between initial symptoms (often shortness of breath) and initial diagnosis of A1AD, and 2. Affected individuals often see many physicians with A1AD-related symptoms before initial diagnosis is made. That under-recognition persists is suggested by the fact that the diagnostic delay intervals remain long even in more recently diagnosed individuals.Alpha-1 Antitrypsin Deficiency – NORD