Journal Information
Vol. 42. Issue 12.
Pages 645-659 (December 2006)
Share
Share
Download PDF
More article options
Vol. 42. Issue 12.
Pages 645-659 (December 2006)
Recommendations of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR)
Full text access
Guidelines for the Diagnosis and Management of α1-Antitrypsin Deficiency
Visits
17681
Rafael Vidala,
Corresponding author
ravidal@vhebron.net

Correspondence: Dr. R. Vidal. Servicio de Neumología. Hospital General Universitari Vall d'Hebron. P.° Vall d'Hebron, 119-129. 08035 Barcelona. España
, Ignacio Blancob, Francisco Casasc, Rosend Jardíd, Marc Miravitllese, the National Alpha-1 Antitrypsin Registry Committee 1
a Servicio de Neumología, Hospital Universitari Vall d'Hebron, Barcelona, Spain
b Servicio de Neumología, Hospital Valle de Nalón, Langreo, Asturias, Spain
c Servicio de Neumología, Hospital Clínico San Cecilio, Granada, Spain
d Servicio de Bioquímica, Hospital Universitari Vall d'Hebron, Barcelona, Spain
e Servicio de Neumología, Institut Clínic del Tòrax (IDIBAPS), Hospital Clínic, Barcelona, Spain
This item has received
Article information
Full text is only aviable in PDF
REFERENCES
[1]
American Thoracic Society/European Respiratory Society Statement: standards for the diagnosis and management of individuals with alpha-antitrypsin deficiency.
Am J Resp Clin Care Med, 168 (2003), pp. 818-900
[2]
CB Laurell, S Eriksson.
The electrophoretic alpha-1-globulin pattern of serum in alpha-1-antitrypsin deficiency.
Scand J Clin Invest, 15 (1963), pp. 132-140
[3]
M Brantly.
Alpha-1-antitrypsin: not just an antiprotease. Extending the half-life of a natural antiinflammatory molecule by conjugation with polyethylene glycol.
Am J Respir Cell Mol Biol, 27 (2002), pp. 652-654
[4]
IE Blanco, FJ de Serres, E Fernández-Bustillo, D Daniel Alkassam, D Arbesú, C Rodríguez, et al.
Alpha-1-antitrypsin and fibromyalgia: new data in favour of the inflammatory hypothesis of fibromyalgia.
Medical Hypotheses, 64 (2005), pp. 759-769
[5]
T Sveger.
Liver disease in a1-antitrypsin deficiency detected by screening of 200,000 infants.
N Engl J Med, 294 (1976), pp. 1316-1321
[6]
RA Stockley.
α1-antitrypsin: more than just deficiency.
Thorax, 59 (2004), pp. 363-364
[7]
M Miravitlles, S Vila, M Torrella, E Balcells, F Rodríguez-Frias, C de la Roza, et al.
Influence of deficient alpha-1-antitrypsin phenotypes on clinical characteristics and severity of asthma in adults.
Respir Med, 96 (2002), pp. 186-192
[8]
D Cox, H Levison.
Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes).
Am Rev Respir Dis, 137 (1988), pp. 371-375
[9]
DL DeMeo, EK Silverman.
α1-antitrypsin deficiency 2: genetic aspects of a1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk.
Thorax, 59 (2004), pp. 259-264
[10]
I Blanco, FJ De Serres, E Fernández-Bustillo, D Daniel Alkassam, C Rodríguez-Menéndez.
Déficit de alfa-1-antitripsina en España (variantes deficientes PiS y PiZ): prevalencia estimada y número de sujetos deficientes calculados para cada fenotipo.
Med Clin (Barc), 123 (2004), pp. 761-765
[11]
Blanco I, de Serres FJ, Fernández-Bustillo E, Lara B, Miravitlles M. Estimates of the prevalence of alpha-1-antitrypsin deficiency PiS and PiZ alleles and the numbers at risk in Europe countries. Eur Respir J. 2006 (in press).
[12]
I Blanco, E Fernández, EF Bustillo.
Alpha-1-antitrypsin Pi phenotypes S and Z in Europe: an analysis of the published surveys.
Clin Genet, 60 (2001), pp. 31-41
[13]
EK Silverman, JA Pierce, MA Province, DC Rao, EJ Campbell.
Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.
Ann Intern Med, 111 (1989), pp. 982-991
[14]
NG McElvaney, JK Stoller, AS Buist, UB Prakash, ML Brantly, MD Schluchter, et al.
Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha-1-antitrypsin deficiency. Alpha-1-Antitrypsin Deficiency Registry Study Group.
Chest, 111 (1997), pp. 394-403
[15]
E Eden, D Mitchell, B Mehlman, H Khouli, M Nejat, MH Grieco, et al.
Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency.
Am J Respir Crit Care Med, 156 (1997), pp. 68-74
[16]
MC Wu, S Eriksson.
Lung function, smoking and survival in severe alpha-1-antitrypsin deficiency, PiZZ.
J Clin Epidemiol, 41 (1988), pp. 1157-1165
[17]
T Sveger, E Piitulainen, M Arborelius.
Lung function in adolescents with alpha-1-antitrypsin deficiency.
Acta Paediatr, 83 (1994), pp. 1170-1173
[18]
E Piitulainen, G Tornling, S Eriksson.
Effect of age and occupational exposure to airway irritants on lung function in nonsmoking individuals with alpha-1-antitrypsin deficiency (PiZZ).
Thorax, 52 (1997), pp. 244-248
[19]
E Piitulainen, G Tornling, S Eriksson.
Environmental correlates of impaired lung function in non-smokers with severe alpha-1-antitrypsin deficiency (PiZZ).
Thorax, 53 (1998), pp. 939-943
[20]
ED Janus, NT Phillips, RW Carrell.
Smoking, lung function, and alpha-1-antitrypsin deficiency.
Lancet, 1 (1985), pp. 152-154
[21]
N Seersholm, A Kok-Jensen, A Dirksen.
Decline in FEV1 among patients with severe hereditary alpha-1-antitrypsin deficiency type PiZ.
Am J Respir Crit Care Med, 152 (1995), pp. 1922-1925
[22]
E Piitulainen, S Eriksson.
Decline in FEV1 related to smoking status in individuals with severe alpha-1-antitrypsin deficiency (PiZZ).
Eur Respir J, 13 (1999), pp. 247-251
[23]
ML Brantly, LD Paul, BH Miller, RT Falk, M Wu, RG Crystal.
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency in adults with pulmonary symptoms.
Am Rev Respir Dis, 138 (1988), pp. 327-336
[24]
N Seersholm, A Kok-Jensen.
Clinical features and prognosis of life time non-smokers with severe alpha-1-antitrypsin deficiency.
Thorax, 53 (1998), pp. 265-268
[25]
The Alpha-1-Antitrypsin Deficiency Registry Study Group.
Survival and FEV1 decline in individuals with severe deficiency of alpha-1-antitrypsin.
Am J Respir Crit Care Med, 158 (1998), pp. 49-59
[26]
AS Buist, B Burrows, S Eriksson, C Mittman, M Wu.
The natural history of air-flow obstruction in PiZ emphysema. Report of a NHLBI workshop.
Am Rev Respir Dis, 127 (1983), pp. 43-45
[27]
N Seersholm, A Dirksen, A Kok-Jensen.
Airways obstruction and two-year survival in patients with severe alpha-1-antitrypsin deficiency.
Eur Respir J, 7 (1994), pp. 1985-1987
[28]
A Novoradovsky, ML Brantly, MA Waclawiw, PP Chaudhary, H Ihara, L Qi, et al.
Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha-1-antitrypsin deficiency.
Am J Respir Cell Mol Biol, 20 (1999), pp. 441-447
[29]
F Rodríguez, C de la Roza, R Jardi, M Schaper, R Vidal, M Miravitlles.
Glutathione S-transferase P1 and lung function in patients with alpha-1-antitrypsin deficiency and COPD.
Chest, 127 (2005), pp. 1537-1543
[30]
PA Dawkins, LJ Dowson, PJ Guest, RA Stockley.
Predictors of mortality in alpha-1-antitrypsin deficiency.
Thorax, 58 (2003), pp. 1020-1026
[31]
N Seersholm.
Body mass index and mortality in patients with severe alpha-1-antitrypsin deficiency.
Respir Med, 91 (1997), pp. 77-82
[32]
M Miravitlles, R Vidal, JC Barros-Tizón, A Bustamante, PP España, F Casas, et al.
Estado actual del tratamiento sustitutivo en el enfisema congénito por déficit de alfa-1-antitripsina. Informe del Registro Nacional.
Arch Bronconeumol, 35 (1999), pp. 446-454
[33]
I Blanco, E Fernández.
Alpha-1-antitrypsin Pi phenotypes S and Z in Spain: an analysis of the published surveys.
Respir Med, 95 (2001), pp. 109-114
[34]
M Needham, RA Stockley.
Alfa-1-antitrypsin deficiency: Clinical manifestations and natural history.
Thorax, 59 (2004), pp. 441-445
[35]
M Dahl, A Tybjaerg-Hansen, P Lange, J Vestbo, BG Nordestgaard.
Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha-1-antitrypsin MZ heterozygotes: a longitudinal study of the general population.
Ann Intern Med, 136 (2002), pp. 270-279
[36]
AJ Sandford, T Chagani, TD Weir, JE Connett, NR Anthonisen, PD Pare.
Susceptibility genes for rapid decline of lung function in the lung health study.
Am J Respir Crit Care Med, 163 (2001), pp. 469-473
[37]
AJ Sandford, TD Weir, PD Pare.
Genetic risk factors for chronic obstructive pulmonary disease.
Eur Respir J, 10 (1997), pp. 1380-1391
[38]
M Dahl, CP Hersh, NP Ly, CS Berkey, EK Silverman, BG Nordestgaard.
The protease inhibitor PiS allele and COPD: a meta-analysis.
Eur Respir J, 26 (2005), pp. 67-76
[39]
GM Turino, AF Barker, ML Brantly, AB Cohen, RP Connelly, RG Crystal, E Eden, MD Schluchter, JK Stoller.
Clinical features of individuals with PiSZ phenotype of alpha-1-antitrypsin deficiency.
Am J Respir Crit Care Med, 154 (1996), pp. 1718-1725
[40]
L Álvarez-Granda, MJ Cabero-Pérez, A Bustamante-Ruiz, D González-Lamuño, M Delgado-Rodríguez, M García-Fuentes.
PiSZ phenotype in chronic obstructive pulmonary disease.
Thorax, 52 (1997), pp. 659-661
[41]
M Miravitlles, R Vidal, M Torrella, JM Bofill, M Cotrina, J de Gracia.
Evaluación del tratamiento sustitutivo del enfisema por déficit de alfa-1-antitripsina.
Arch Bronconeumol, 30 (1994), pp. 479-484
[42]
JK Stoller.
Clinical features and natural history of severe alpha-1-an-titrypsin deficiency. Roger S. Mitchell Lecture.
Chest, 111 (1997), pp. 123S-128S
[43]
M Miravitlles.
Enfisema por déficit de alfa-1-antripsina: ¿es realmente una enfermedad infrecuente?.
Med Clin (Barc), 123 (2004), pp. 778-779
[44]
LJ Dawson, PJ Guest, RA Stockley.
The relationship of chronic sputum expectoration to physiologic, radiologic and health status characteristics in alpha-1 antitrypsin deficiency (PiZ).
Chest, 122 (2002), pp. 1247-1255
[45]
AT Hill, EJ Campbell, DL Bayley, SL Hill, RA Stockley.
Evidence for excessive bronchial inflammation during an acute exacerbation of chronic obstructive pulmonary disease in patients with alpha-1-antitrypsin deficiency (PiZ).
Am J Respir Crit Care Med, 160 (1999), pp. 1968-1975
[46]
Alpha-1-antitrypsin deficiency: memorandum from a WHO meeting.
Bulletin of the WHO, 75 (1997), pp. 397-415
[47]
M Miravitlles, S Vila, R Jardi, C de la Roza, F Rodríguez-Frias, R Vidal.
Emphysema due to alpha-antitrypsin deficiency: familial study of the YBARCELONA variant.
Chest, 124 (2003), pp. 404-406
[48]
C de la Roza, F Rodríguez-Frías, B Lara, R Vidal, R Jardí, M Miravitlles.
Results of a case-detection programme for alpha-1-antitrypsin deficiency in COPD patients.
Eur Respir J, 26 (2005), pp. 616-622
[49]
N Seersholm, A Kok-Jensen, A Dirksen.
Survival of patients with severe alpha-1-antitrypsin deficiency with special reference to nonindex cases.
Thorax, 94 (1994), pp. 695-698
[50]
R Vidal, M Miravitlles, R Jardí, M Torrella, F Rodríguez-Frías, P Moral, et al.
Estudio de la frecuencia de los diferentes fenotipos de la alfa-1-antitripsina en una población de Barcelona.
Med Clin (Barc), 107 (1996), pp. 211-214
[51]
R Jardi, F Rodríguez-Frias, F Casas, M Cotrina, R Vidal, M Miravitlles, et al.
Molecular characterization of two variants of alpha-1-antitrypsin deficiency: Pi Mpalermo and Pi Plovel.
Med Clin (Barc), 109 (1997), pp. 463-466
[52]
R Jardi, F Rodríguez-Frias, JC López-Talavera, M Miravitlles, M Cortina, X Costa, et al.
Characterization of the new alpha1 antytrypsin deficient PiM type allele, PiM Vall d'Hebron (Pro369Ser).
Hum Hered, 50 (2000), pp. 320-321
[53]
R Jardi, F Rodríguez, M Miravitlles, R Vidal, M Cotrina, J Quer, et al.
Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele Pi Y Barcelona (Asp256—>Val and Pro391— >His).
Hum Mutat, 12 (1998), pp. 213
[54]
F Rodríguez, R Jardi, X Costa, M Cotrina, R Galiany, R Vidal, M Miravitlles.
Rapid screening for alpha-1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens.
Am J Respir Crit Care Med, 166 (2002), pp. 814-817
[55]
M Miravitlles, R Jardi, F Rodríguez-Frias, M Torrella, D Pelegri, R Vidal.
Utilidad de la cuantificación de la banda alfa-1 del proteinogramasérico en el cribado del déficit de alfa-1-antitripsina.
Arch Bronconeumol, 34 (1998), pp. 536-540
[56]
C de la Roza, X Costa, R Vidal, S Vila, F Rodríguez-Frias, R Jardi, et al.
Programa de cribado para el déficit de alfa-1-antitripsina en pacientes con EPOC mediante el uso de gota de sangre en papel secante.
Arch Bronconeumol, 39 (2003), pp. 8-12
[57]
X Costa, R Jardí, F Rodríguez, M Miravitlles, M Cotrina, C Pascual, et al.
Easy method for screening dried blood spot specimens on filter paper for alpha-1 antitrypsin deficiency.
Eur Respir J, 15 (2000), pp. 1111-1115
[58]
R Vidal, M Miravitlles, y Grupo de Estudio del Déficit de Alfa-1-anti-tripsina.
Informe del Registro Español de Pacientes con Déficit de Alfa-1-antitripsina.
Arch Bronconeumol, 31 (1995), pp. 299-302
[59]
M Wencker, for the International Registry on alpha-1-antitrypsin deficiency.
New formation of the international Registry on alpha-1 antitrypsin deficiency as a joint database of multiple national registries.
Eur Respir J, 12 (1998), pp. 382
[60]
M Luisetti, M Miravitlles, RA Stockley.
Alpha-1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001.
Eur Respir J, 20 (2002), pp. 1050-1056
[61]
JA Barberà, G Peces-Barba, AGN Agustí, JL Izquierdo, E Monsó, T Montemayor, et al.
Guía clínica para el diagnóstico y el tratamiento de la enfermedad pulmonar obstructiva crónica.
Arch Bronconeumol, 37 (2001), pp. 297-316
[62]
M Miravitlles.
Tratamiento de la enfermedad pulmonar obstructiva crónica.
Med Clin (Barc), 125 (2005), pp. 65-74
[63]
MD Wewers, MA Casolaro, SE Sellers, SC Swayze, KM McPhaul, JT Wittes, et al.
Replacement therapy for alpha-1-antitrypsin deficiency associated with emphysema.
N Engl J Med, 316 (1987), pp. 1055-1062
[64]
A Dirksen, JH Dijkman, F Madsen, B Stoel, DC Hutchison, CS Ulrik, et al.
A randomized clinical trial of alpha-1-antitrypsin augmentation therapy.
Am J Respir Crit Care Med, 160 (1999), pp. 1468-1472
[65]
N Seersholm, M Wencker, N Banik, K Viskum, A Dirksen, A Kok-Jensen, et al.
Does alpha-1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha-1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group.
Eur Respir J, 10 (1997), pp. 2260-2263
[66]
M Wencker, B Fuhrmann, N Banik, N Konietzko, for the Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen.
Longitudinal follow-up of patients with alpha-1-protease inhibitor deficiency before and during therapy with alpha-1-protease inhibitor.
Chest, 119 (2001), pp. 737-744
[67]
M Miravitlles, J de Gracia, MJ Rodrigo, MJ Cruz, M Vendrell, R Vidal, et al.
Specific antibody response against the 23-valent pneumococcal vaccine in patients with alpha-1-antitrypsin deficiency with and without bronchiectasis.
Chest, 116 (1999), pp. 946-952
[68]
J Lieberman.
Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data.
Chest, 118 (2000), pp. 1480-1485
[69]
RA Stockley, DL Bayley, I Unsal, LJ Dowson.
The effect of augmentation therapy on bronchial inflammation in alpha-1-antitrypsin deficiency.
Am J Respir Crit Care Med, 165 (2002), pp. 1494-1498
[70]
RC Hubbard, S Sellers, D Czerski, L Stephens, RG Crystal.
Biochemical efficacy and safety of monthly augmentation therapy for alpha-1-antitrypsin deficiency.
JAMA, 260 (1988), pp. 1259-1264
[71]
JK Stoller, R Fallat, MD Schluchter, RG O'Brien, JT Connor, N Gross, et al.
Augmentation therapy with alpha-1-antitrypsin: patterns of use and adverse events.
Chest, 123 (2003), pp. 1425-1434
[72]
JK Stoller, F Rouhani, M Brantly, S Shahin, RA Dweik, JM Stocks, et al.
Biochemical efficacy and safety of a new pooled human plasma alpha-1-antitrypsin, Respitin.
Chest, 122 (2002), pp. 66-74
[73]
M Miravitlles, R Vidal, JC Barros-Tizón, A Bustamante, PP España, F Casas, et al.
Usefulness of a national Registry of alpha-1-antitrypsin deficiency. The Spanish experience.
Respir Med, 92 (1998), pp. 1181-1187
[74]
C de la Roza, D Soy, B Lara, S Vila, C Esquinas, A Torres, M Miravitlles.
Can the intervals of exogenous alpha-1-antitrypsin (AAT) administration be lengthened?.
Am J Respir Crit Care Med, 2 (2005), pp. A809
[75]
Vidal R, Drobnic ME, Sala F, Padulles N, Montoro JB, Jardí R, et al. Farmacocinética de la alfa-1-antitripsina utilizada en el tratamiento sustitutivo del enfisema congénito grave. Arch Bronconeumol. 2006 (in press).
[76]
PC Cassina, H Teschler, N Konietzko, D Theegarten, G Stamatis.
Two-year results after lung volume reduction surgery in alpha-1-antitrypsin deficiency versus smoker's emphysema.
Eur Respir J, 12 (1998), pp. 1028-1032
[77]
M Schwaiblmair, C Vogelmeier, G Fruhmann.
Long-term augmentation therapy in twenty patients with severe alpha-1-antitrypsin deficiency–three-year follow-up.
Respiration, 64 (1997), pp. 10-15
[78]
EW Schmidt, B Rasche, WT Ulmer, N Konietzko, M Becker, JP Fallise, et al.
Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive lung disease.
Am J Med, 84 (1988), pp. 63-69
[79]
AF Barker, F Siemsen, D Pasley, R D'Silva, AS Buist.
Replacement therapy for hereditary alpha-1-antitrypsin deficiency. A program for long-term administration.
Chest, 105 (1994), pp. 1406-1410
[80]
DJ Gottlieb, M Luisetti, PJ Stone, L Allegra, JM Cantey-Kiser, C Grassi, et al.
Short-term supplementation therapy does not affect elastin degradation in severe alpha-1-antitrypsin deficiency. The American-Italian AATD Study Group.
Am J Respir Crit Care Med, 162 (2000), pp. 2069-2072
[81]
JK Stoller, LS Aboussonan.
Alpha-1-antitrypsin deficiency. 5: intravenous augmentation therapy: current understanding.
Thorax, 59 (2004), pp. 708-712

National Alpha-1 Antitrypsin Registry Committee:

Juan Carlos Barros-Tizón, Ana Bustamante, Carlos Escudero, Pedro P. España, Maite Martínez, and Francisco Rodríguez-Frías.

Registry Collaborators: Cristian de la Roza, Sara Vilà, Zvezda Drobnic, María Torres, Beatriz Lara, Bruno Montoro, Dolors Soy, and Pilar Gispert.

Copyright © 2006. Sociedad Española de Neumología y Cirugía Torácica (SEPAR)
Archivos de Bronconeumología
Article options
Tools

Are you a health professional able to prescribe or dispense drugs?