Alpha-1 Antitrypsin Replacement in Patients With COPD.

Alpha-1 Antitrypsin Replacement in Patients With COPD. P T. 2019 Jul;44(7):412-415 Authors: Wells AD, Woods A, Hilleman DE, Malesker MA Abstract Chronic obstructive pulmonary disease can be attributed to genetic conditions and predispositions, among other factors. Alpha-1 antitrypsin deficiency (AATD) is a significant risk factor for COPD development and progression, and aggressive screening for all patients with COPD or adult-onset asthma is encouraged. PMID: 31258312 [PubMed]
Source: P and T - Category: Drugs & Pharmacology Tags: P T Source Type: research

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Conclusion: Serum concentration and alleleic conformation of SFTPD has a significantly high predictive value for COPD and AECOPD. Thus, these can be tested further and could be applied as a predictive or prognostic marker. Introduction Chronic Obstructive Pulmonary Disease (COPD) affects lungs and exhibits irreversible airflow conditions that leads to improper respiratory function (Carolan et al., 2014). COPD is a global disease burden which accounts for ~3 million deaths annually (Zemans et al., 2017) and is responsible for the increase in worldwide mortality and morbidity (Dickens et al., 2011). Chronic Obstructi...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Purpose of review In asthma and chronic obstructive pulmonary disease (COPD), the movement towards genetic profiling with a push towards ‘personalized medicine’ has been hindered by complex environment--gene interactions and lack of tools to identify clear causal genetic traits. In this review, we will discuss the need for genetic profiling in asthma and COPD, what methods are currently used in the clinics and the recent finding using new sequencing methods. Recent findings Over the past 10–15 years, genome-wide association studies analysis of common variants has provide little in the way of new gene...
Source: Current Opinion in Pulmonary Medicine - Category: Respiratory Medicine Tags: GENETICS: Edited by Coline H.M. van Moorsel Source Type: research
Background: Alpha(1)-Antitrypsin deficiency (AATD) is frequently underdiagnosed. The aim of this was to know the AAT level determination frequency in COPD patients treated at outpatient respiratory clinics in Spain and to describe factors associated with the screening/diagnosis of AATD.Methodology: EPOCONSUL is a Spanish nationwide clinical audit that evaluates the outpatient management of COPD. This is a cross-sectional clinical audit, recruiting consecutive COPD cases over one year.Results: We evaluated a total of 4,405 clinical records of COPD patients from 57 Spanish hospitals. Only 995 (22.5%) patients had undergone s...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
Background: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition associated with an increased risk of developing pulmonary emphysema. We aimed to discover the prevalence of AATD in COPD patients treated at outpatient respiratory clinics in whom the test is performed and to describe their clinical characteristics.Methodology: EPOCONSUL is a Spanish nationwide clinical audit that evaluates the outpatient management of COPD. This is an observational study with prospective recruitment (2014–15) of patients COPD as seen in respiratory clinics.Results: A total of 4,408 clinical records for COPD patients from 57 Spa...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
Conclusions: Men and smoking habits history were more prevalent. There was a significant diagnosis delay since symptoms onset. Most of them started follow-up due to respiratory symptoms. The commonest phenotypes were SZ and ZZ; ZZ was associated to lower AAT and DLCO levels and more pneumonia hospitalizations. Obstruction on PFT was prevalent. Few pts had criteria to prolastin treatment and transplant.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical Problems Source Type: research
ConclusionsOver the past years, AATD has been interpreted as a common mechanism of inflammatory disequilibrium and tissue damage across different conditions. Future research is gradually pointing toward this new paradigm by expanding the evidence of the role of AAT as a potent immunomodulatory and anti-inflammatory drug in conditions different from pulmonary emphysema.
Source: Multidisciplinary Respiratory Medicine - Category: Respiratory Medicine Source Type: research
Authors: Perciaccante A, Charlier P, Negri C, Coralli A, Appenzeller O, Bianucci R Abstract A1AT deficiency- a genetically inherited autosomal codominant disease with more than 120 identified alleles- was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1AT causes an increased risk of developing pulmonary emphysema and liver disease. In A1AT patients, lung disease generally presents at a younger age than "usual" chronic obstructive pulmonary disease (COPD) and it may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical feat...
Source: COPD: Journal of Chronic Obstructive Pulmonary Disease - Category: Respiratory Medicine Tags: COPD Source Type: research
Abstract Since the discovery of severe alpha-1 antitrypsin deficiency as a genetic risk factor for emphysema, there has been ongoing debate over whether individuals with intermediate deficiency with one protease inhibitor Z allele (PiMZ, or MZ) are at some risk for emphysema. This is important, because MZ individuals comprise 2-5% of the general population. In this review we summarise the evidence about the risks of the MZ population to develop emphysema or asthma. We discuss the different study designs that have tried to answer this question. The risk of emphysema is more pronounced in case-control than in popula...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Eur Respir Rev Source Type: research
Since the discovery of severe alpha-1 antitrypsin deficiency as a genetic risk factor for emphysema, there has been ongoing debate over whether individuals with intermediate deficiency with one protease inhibitor Z allele (PiMZ, or MZ) are at some risk for emphysema. This is important, because MZ individuals comprise 2–5% of the general population. In this review we summarise the evidence about the risks of the MZ population to develop emphysema or asthma. We discuss the different study designs that have tried to answer this question. The risk of emphysema is more pronounced in case–control than in population-b...
Source: European Respiratory Review - Category: Respiratory Medicine Authors: Tags: COPD and smoking, Genetics Reviews Source Type: research
Discussion α-1-Antitrypsin Deficiency (A1AT) is a common single-gene mutation disease that is homozygous recessive. The normal allele is called M and the most common abnormal allele is Z. There are other alleles though. The gene codes for one of the primary protease inhibitors in the serum, thus those who are homozygous for the Z gene are sometimes referred to as “PIZZ” or “PIZ.” α-1-Antitrypsin is found in all body tissues but is especially important in the serum and lung. As noted it is one of the primary neutrophil protease inhibitors in the serum, and acts to neutralize these enzymes...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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