Timm Greulich1, Alexander Averyanov2, Ludmila Borsa3, Eva Rozborilová4, Dalius Vaicius5, Tamás Major6, Valentyna Chopyak7, Voicu Tudorache8, Tatyana Konstantinova9, Sandra Camprubí10. 1. Department of Internal Medicine, Division for Pulmonary Diseases, Philipps-University Marburg, Marburg, Germany. 2. Department of Pulmonology, Federal Research Clinical Center of Federal Medical & Biological Agency of the Russian Federation, Moscow, Russian Federation. 3. Doctorat 'BINI', Ventspils, Latvia. 4. Clinic of Pneumology and Phthisiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Bratislava, Slovakia. 5. Diagnostic Department of Internal Medicine, Vilnius University Hospital Santariskiu Klinikos Center Affiliate, Vilnius, Lithuania. 6. Pulmonological Service Provider, Kaposi Mór Teaching Hospital, Kaposvar, Hungary. 7. Department of Clinical Immunology and Allergology of L'viv Region Clinical Diagnostic Center, Danylo Halytsky Lviv National Medical University, L'viv, Ukraine. 8. Pneumology Clinic, Victor Babes Hospital, Timisoara, Romania. 9. District Dispensary for Pulmonary - Phthisis Diseases, Hospital Saint Ivan Rilski, Blagoevgrad, Bulgaria. 10. Clinical Department, Instituto Grifols S.A., Barcelona, Spain.
Abstract
BACKGROUND AND AIMS: Alpha1 -antitrypsin deficiency (AATD) predisposes individuals to early-onset emphysema. Despite its prevalence, especially among patients with chronic obstructive pulmonary disease, AATD is still underdiagnosed. The aim of this study is to identify individuals with lung disease and severe AATD in central-eastern Europe. METHODS: Subjects with respiratory symptoms that could be indicative of AATD provided blood samples as dried blood spot. The alpha1 -antitrypsin (AAT) concentration was determined by nephelometry and, if lower than 1.70 mg/dL in dried blood spot (equivalent to 1.04 g/L in serum), polymerase chain reaction was used to detect the PiS and PiZ alleles. Isoelectric focusing was used for confirmation of doubtful genotype results. RESULTS: From 13 countries, 11 648 subjects were included. Genotyping of 1404 samples with AAT levels <1.70 mg/dL revealed 71 (5.06%) PiS, 151 (10.8%) PiZ, 1 (0.071%) PiSS, 8 (0.57%) PiSZ and 32 (2.28%) PiZZ. Phenotyping of 1363 samples negative for the S and Z alleles or with PiS and PiZ genotype showed two (0.147%) PiZ(rare) and two (0.147%) Pi(null)(null). The countries with the highest rate of severe AATD were Croatia, Russia and Slovakia. By regions, the Baltic countries area showed the highest rate of both PiZ and severe AATD (2.45% and 1.20%, respectively) while the lowest rates were observed in the Balkan Peninsula (0.48% and 0.31%, respectively). CONCLUSION: This study confirms the need for targeted testing of symptomatic patients and provides AATD genotype data from countries for which only some estimates of prevalence were available until now.
BACKGROUND AND AIMS: Alpha1 -antitrypsin deficiency (AATD) predisposes individuals to early-onset emphysema. Despite its prevalence, especially among patients with chronic obstructive pulmonary disease, AATD is still underdiagnosed. The aim of this study is to identify individuals with lung disease and severe AATD in central-eastern Europe. METHODS: Subjects with respiratory symptoms that could be indicative of AATD provided blood samples as dried blood spot. The alpha1 -antitrypsin (AAT) concentration was determined by nephelometry and, if lower than 1.70 mg/dL in dried blood spot (equivalent to 1.04 g/L in serum), polymerase chain reaction was used to detect the PiS and PiZ alleles. Isoelectric focusing was used for confirmation of doubtful genotype results. RESULTS: From 13 countries, 11 648 subjects were included. Genotyping of 1404 samples with AAT levels <1.70 mg/dL revealed 71 (5.06%) PiS, 151 (10.8%) PiZ, 1 (0.071%) PiSS, 8 (0.57%) PiSZ and 32 (2.28%) PiZZ. Phenotyping of 1363 samples negative for the S and Z alleles or with PiS and PiZ genotype showed two (0.147%) PiZ(rare) and two (0.147%) Pi(null)(null). The countries with the highest rate of severe AATD were Croatia, Russia and Slovakia. By regions, the Baltic countries area showed the highest rate of both PiZ and severe AATD (2.45% and 1.20%, respectively) while the lowest rates were observed in the Balkan Peninsula (0.48% and 0.31%, respectively). CONCLUSION: This study confirms the need for targeted testing of symptomatic patients and provides AATD genotype data from countries for which only some estimates of prevalence were available until now.
Authors: G E Carpagnano; R Santacroce; G A Palmiotti; A Leccese; E Giuffreda; M Margaglione; M P Foschino Barbaro; S Aliberti; D Lacedonia Journal: Lung Date: 2017-07-01 Impact factor: 2.584
Authors: Ildikó Horváth; Maria Canotilho; Jan Chlumský; Joanna Chorostowska-Wynimko; Luciano Corda; Eric Derom; Joachim H Ficker; Meinhard Kneussl; Marc Miravitlles; Maria Sucena; Gabriel Thabut; Alice M Turner; Emily van 't Wout; N Gerard McElvaney Journal: ERJ Open Res Date: 2019-03-11
Authors: María Torres-Durán; José Luis Lopez-Campos; Miriam Barrecheguren; Marc Miravitlles; Beatriz Martinez-Delgado; Silvia Castillo; Amparo Escribano; Adolfo Baloira; María Mercedes Navarro-Garcia; Daniel Pellicer; Lucía Bañuls; María Magallón; Francisco Casas; Francisco Dasí Journal: Orphanet J Rare Dis Date: 2018-07-11 Impact factor: 4.123