![]() ![]() The current study specifically attempts to determine estimates of the prevalence and number of subjects carrying the most common defective alleles, PI*S and PI*Z, in each of the individual European countries. Knowledge of the AT-D prevalence in every community is essential from a public health perspective. ![]() The risk of developing diseases for PI SS and PI MS phenotypes has been the topic of longstanding controversy, but no clear evidence on the relationship among these phenotypes with AT-D-associated diseases has been established to date 2, 5, 6.ĪT-D is not properly a disease, but a predisposition for the development of a number of diseases throughout life, mainly pulmonary emphysema and several types of hepatopathies in both children and adults 2, 3. The remaining 4% mostly belongs to SZ, MZ and, in a smaller amount, to other rare deficiency or null phenotypes. Most pathology related to AT-D is linked to the Z allele and, in clinical practice, 96% of patients have a ZZ phenotype 3– 6. Variants that confer an increased risk for developing diseases are those in which deficiency or null alleles are combined in homozygous or heterozygous states that encode AT plasma concentrations <60%. Variants are classified according to the protease inhibitor (PI) system, by means of isoelectrofocusing (IEF). The AT gene is highly pleomorphic, with ∼100 alleles having been identified to date. The largest number of ZZ (5,000–15,000) were in Italy, Spain, Germany, France, the UK, Latvia, Sweden and Denmark, followed by Belgium, Portugal, Serbia-Montenegro, Russia, The Netherlands, Norway and Austria (1,000–2,000), with <1,000 in each of the remaining countries.Ī remarkable lack in number of reliable epidemiological studies and marked differences among these European countries and regions within a given country was also found.Īlthough α 1-antitrypsin (AT) deficiency (AT-D) is one of the most common hereditary disorders in Europe, AT-D prevalence varies markedly from one country to another, as well as from one region to another within a given country 1.ĪT is the most prevalent proteases inhibitor in the human serum, and is secreted mainly by hepatocytes 2. The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ 560,515 SZ 16,323,226 MZ 630,401 SS and 36,716,819 MS. The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for α 1-antitrypsin deficiency (AT-D) in Europe.Ĭriteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen–antibody crossed electrophoresis 2) rejection of “screening studies” 3) statistical precision factor score of ≥5 for Southwest, Western and Northern Europe, ≥4 for Central Europe, ≥3 for Eastern Europe and 4) samples representative of the general population.Ī total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland two each from Denmark, Estonia and Lithuania three each from Portugal and the UK four each from Finland, the Netherlands, Norway and Spain five each from Russia and Germany six from Poland eight from Italy and nine from France). ![]()
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