Alpha 1-antitrypsin deficiency epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD) is more common in people of Northern European, Iberian, and Saudi Arabian descent. Most researchers believe it is markedly underrecognized.
Epidemiology and Demographics
People of northern European, Iberian and Saudi Arabian ancestry are at the highest risk for A1AD. Four percent carry the PiZ allele; between 1 in 625 and 1 in 2000 are homozygous.
It is estimated that between 80,000 – 1000,000 (~ 1 in 1,650 to 1 in 3,000) Americans have severe alpha-1 AT deficiency (PI ZZ phenotype).In a recent survey, the average time interval between the onset of pulmonary symptoms and time of diagnosis was 7.2 years. Additionally, 43% of patients see at least 3 physicians before the diagnosis is established, and 12% see between 6 and 10. Thus, most authors believe that alpha-1 AT deficiency is markedly underrecognized. Because there are genetic implications to the next generation, that diagnosis can assist in smoking prevention / cessation, and that treatment is now available, enhanced detection is essential.
Incidence
The incidence of AATD is estimated to be (1 per 5000 ) cases per 100,000 individuals worldwide.
Prevalence
The prevalence of AATD is estimated to be 70,000-100,000 cases annually. Alpha1-antitrypsin deficiency (AATD) is one of most common lethal genetic diseases among adult white population. AATD has estimated 117 million carriers and 3.4 million affected individuals.
Race
AATD is more prevalent among the white population.
Sex
Men and women are affected equally by AATD.
Age
The enzyme deficiency is congenital and has a bimodal symptomatic distribution. It can present in neonates as a cause of neonatal jaundice and hepatitis.In infants it can cause cholestatic jaundice and in children, hepatic cirrhosis or liver failure. AATD is also the leading condition requiring liver transplantation in children.
AATD leads to chronic liver disease in the fifth decade of life. Emphysema in AATD, is seen in nonsmokers in the fifth decade of life and during the fourth decade of life in smokers.