Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease: A Family Perspective

References

• Bruun-Petersen K, Bruun-Petersen G, Dahl R, Larsen B, K¯lvraa S, Koch J, Bolund L, Gregersen N. Alpha 1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes. Eur Respir J 1992; 5(5):531–537.
   PubMed Web of Science ®Google Scholar
• Carrell RW, Jeppsson JO, Laurell CB, Brennan SO, Owen MC, Vaughan L, Boswell DR. Structure and variation of human alpha 1-antitrypsin. Nature 1982; 298(5872):329–334.
   PubMed Web of Science ®Google Scholar
• Kodama T, Yukioka H, Kato T, Kato N, Hato F, Kitagawa S. Neutrophil elastase as a predicting factor for development of acute lung injury. Intern Med 2007; 46(11):699–704.
   PubMed Web of Science ®Google Scholar
• Hubbard RC, Fells G, Gadek J, Pacholok S, Humes J, Crystal RG. Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages. J Clin Invest 1991; 88(3):891–897.
   PubMed Web of Science ®Google Scholar
• Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ. J Clin Epidemiol 1988; 41(12):1157–1165.
   PubMed Web of Science ®Google Scholar
• Seersholm N, Kok-Jensen A. Survival in relation to lung function and smoking cessation in patients with severe hereditary alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med 1995; 151(2 Pt 1):369–373.
   PubMed Web of Science ®Google Scholar
• Kochanek KD, Xu J, Murphy SL, MiniÒo AM, Kung H-C. Deaths: final data for 2009. Natl Vital Stat Rep 2011; 60(3):1–116.
   PubMedGoogle Scholar
• Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest 1986; 89(3):370–373.
   PubMed Web of Science ®Google Scholar
• American Thoracic Society, European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168(7):81–900.
   Google Scholar
• Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest 2005; 128(3):1179–1186.
   PubMed Web of Science ®Google Scholar
• Kohnlein T, Janciauskiene S, Welte T. Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency. Ther Adv Respir Dis 2010; 4(5):279–287.
   PubMedGoogle Scholar
• Wencker M, Fuhrmann B, Banik N, Konietzko N, Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen. Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor. Chest 2001; 119(3):737–744.
   PubMed Web of Science ®Google Scholar
• Stoller JK, Tomashefski J, Jr., Crystal RG, Arroliga A, Strange C, Killian DN, Schluchter MD, Wiedemann HP. Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest 2005; 127(4):1196–1204.
   PubMed Web of Science ®Google Scholar
• Stockley RA, Parr DG, Piitulainen E, Stolk J, Stoel BC, Dirksen A. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res 2010; 11:136.
   PubMed Web of Science ®Google Scholar
• Liedstrom E, Isaksson AK, Ahlstrom G. Quality of life in spite of an unpredictable future: the next of kin of patients with multiple sclerosis. J Neurosci Nurs 2010; 42(6):331–341.
   PubMed Web of Science ®Google Scholar
• Gupta S, Goren A, Phillips AL, Stewart M. Self-reported burden among caregivers of patients with multiple sclerosis. Int J MS Care 2012; 14(4):179–187.
   Google Scholar
• Aymerich M, Guillamon I, Jovell AJ. Health-related quality of life assessment in people with multiple sclerosis and their family caregivers. A multicenter study in Catalonia (Southern Europe). Patient Prefer Adherence 2009; 3:311–321.
   PubMed Web of Science ®Google Scholar
• Argyriou AA, Karanasios P, Ifanti AA, Iconomou G, Assimakopoulos K, Makridou A, Giannakopoulou F, Makris N. Quality of life and emotional burden of primary caregivers: a case-control study of multiple sclerosis patients in Greece. Qual Life Res 2011; 20(10):1663–1668.
   PubMed Web of Science ®Google Scholar
• Hwang B, Howie-Esquivel J, Fleischmann KE, Stotts NA, Dracup K. Family caregiving in pulmonary arterial hypertension. Heart Lung 2012; 41(1):26–34.
   PubMed Web of Science ®Google Scholar
• Swigris JJ, Stewart AL, Gould MK, Wilson SR. Patients’ perspectives on how idiopathic pulmonary fibrosis affects the quality of their lives. Health Qual Life Outcomes 2005; 3:61.
   PubMedGoogle Scholar
• Peters M, Jenkinson C, Doll H, Playford ED, Fitzpatrick R. Carer quality of life and experiences of health services: a cross-sectional survey across three neurological conditions. Health Qual Life Outcomes 2013; 11:103.
   PubMed Web of Science ®Google Scholar
• Kuprys-Lipinska I, Kuna P. Impact of chronic obstructive pulmonary disease (COPD) on patient's life and his family. Pneumonol Alergol Pol 2014; 82(2):82–95.
   PubMedGoogle Scholar
• Rich S, Dantzker DR, Ayres SM, Bergofsky EH, Brundage BH, Detre KM, Fishman AP, Goldring RM, Groves BM, Koerner SK, Levy PC, Reid LM, Vreim CE, Williams GW. Primary pulmonary hypertension. A national prospective study. Ann Intern Med 1987; 107(2):216–223.
   PubMed Web of Science ®Google Scholar
• Acaster S, Perard R, Chauhan D, Lloyd AJ. A forgotten aspect of the NICE reference case: an observational study of the health related quality of life impact on caregivers of people with multiple sclerosis. BMC Health Serv Res 2013; 13:346.
   PubMed Web of Science ®Google Scholar
• Campos M, Shmuels D, Walsh J. Detection of alpha-1 antitrypsin deficiency in the US. Am J Med 2012; 125(7):623–624.
   PubMed Web of Science ®Google Scholar
• Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis 2008; 3:16.
   PubMed Web of Science ®Google Scholar
• Carroll TP, O'Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, Dimitrov BD, Morris VB, Taggart CC, McElvaney NG. The prevalence of alpha-1 antitrypsin deficiency in Ireland. Respir Res 2011; 12:91.
   PubMed Web of Science ®Google Scholar
• Miravitlles M, Herr C, Ferrarotti I, Jardi R, Rodriguez-Frias F, Luisetti M, Bals R. Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres. Eur Respir J 2010; 35(5):960–968.
   PubMed Web of Science ®Google Scholar
• Bogoslaw D. A Peak Earning Years Portfolio. Bloomberg Business Week. March 17, 2009.
   Google Scholar
• Mullins CD, Huang X, Merchant S, Stoller JK; Alpha One Foundation Research Network Registry Investigators. The direct medical costs of alpha(1)-antitrypsin deficiency. Chest 2001; 119(3):745–752.
   PubMed Web of Science ®Google Scholar
• Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD 2013; 10(2):226–234.
   PubMedGoogle Scholar
• Seersholm N, Wencker M, Banik N, Viskum K, Dirksen A, Kok-Jensen A, Konietzko N. Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J 1997; 10(10):2260–2263.
   PubMed Web of Science ®Google Scholar
• Hutchison DC. Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998; 92(3):367–377.
   PubMed Web of Science ®Google Scholar
• Wencker M, Banik N, Buhl R, Seidel R, Konietzko N. Long-term treatment of alpha1-antitrypsin deficiency-related pulmonary emphysema with human alpha1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-alpha1-AT-study group. Eur Respir J 1998; 11(2):428–433.
   PubMed Web of Science ®Google Scholar
• Dirksen A, Dijkman JH, Madsen F, Stoel B, Hutchison DC, Ulrik CS, Skovgaard LT, Kok-Jensen A, Rudolphus A, Seersholm N, Vrooman HA, Reiber JH, Hansen NC, Heckscher T, Viskum K, Stolk J. A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy. Am J Respir Crit Care Med 1999; 160(5 Pt 1):1468–1472.
   PubMed Web of Science ®Google Scholar
• Dirksen A, Piitulainen E, Parr DG, Deng C, Wencker M, Shaker SB, Stockley RA. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 2009; 33(6):1345–1353.
   PubMed Web of Science ®Google Scholar
• Stocks JM, Brantly ML, Wang-Smith L, Campos MA, Chapman KR, Kueppers F, Sandhaus RA, Strange C, Turino G. Pharmacokinetic comparability of Prolastin®-C to Prolastin in alpha(1)-antitrypsin deficiency: a randomized study. BMC Clin Pharmacol 2010; 10:13.
   PubMedGoogle Scholar
• Campos MA, Kueppers F, Stocks JM, Strange C, Chen J, Griffin R, Wang-Smith L, Brantly ML. Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha-1 proteinase inhibitor in alpha-1 antitrypsin deficiency: a multicenter, randomized, double-blind, crossover study (SPARK). COPD 2013; 10(6):687–695.
   PubMedGoogle Scholar
• Grifols Therapeutics Inc Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD) (SPARTA). October 28, 2013. http://clinicaltrials.gov/show/NCT01983241. Accessed August 18, 2014.
   Google Scholar