| Alpha-1 Facts |
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The Basics The History The Genetic Path The Symptoms The Phenotypes The Treatments The Testing |
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How was AATD discovered? Much has been learned about the natural history of AATD deficiency since the first patients with this condition were reported by Laurell and Erickson in Sweden, 1963. It is believed to affect as many as 100,000 people in the U.S. Women and men are affected in equal numbers. Similar rates are found among whites worldwide. A1AD is most common among Caucasians of Northern Europe descent (1,2) It is the most common genetic cause of liver disease in children and the early onset of emphysema in adults affecting the lower lobes of the lung. In infants, the disease causes neonatal cirrhosis, which is often fatal. The name of this disease originated from a deficiency of the serum antiprotease, originally called AAT. The enzyme deficiency is present from birth and can be an unusual cause of neonatal jaundice. Symptomatic emphysema develops in the fourth decade of life in smokers and a decade later in nonsmokers. Estimates of the prevalence of AATD (especially the PiZZ phenotype) have varied considerably, depending on the population used to derive the estimate, the ethnic mix of the population, and the method of phenotyping. In North America, the responsible genetic defect affects 1 in 3000-5000 individuals, making it 1 of the 3 most common lethal genetic diseases among whites. The other 2 common fatal genetic defects are cystic fibrosis and Down syndrome. Fortunately, not every individual with AAT deficiency develops clinically significant disease. Specific morbidity and mortality rates are unknown. Not all patients with homozygous deficiency develop symptomatic emphysema or cirrhosis; however, among those who develop symptomatic disease, the mortality rate is very high. It is believed that A1AD was spread by the Vikings. Read about The Viking Legacy.
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