eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0013990|emphysema |
| Sentences | 15 |
| PubMedID- 22365503 | Since the end of the 1980s augmentation therapy with alpha-1 antitrypsin (aat) from human plasma has been available for specific treatment of emphysema due to aat deficiency. |
| PubMedID- 24551017 | [4] the emphysema associated with aatd is typically worse in the lower lung zones because protease: protease inhibitor imbalance occurs in the lower respiratory tract. |
| PubMedID- 22236390 | We report the outcome of bronchoscopic volume reduction with the insertion of emphasys endobronchial valves (emphasys medical, redwood city, ca, usa) in six patients with end-stage emphysema because of aat deficiency. |
| PubMedID- 24063809 | Background: intravenous augmentation therapy is the only specific treatment available for emphysema associated with alpha-1 antitrypsin deficiency. |
| PubMedID- 22697349 | Considered the prototypic serpin, the emphysema observed in patients with aatd, consisting of progressive destruction of the alveoli and small airway structures, formed the basis of the protease/anti-protease imbalance theory of chronic obstructive pulmonary disease (copd). |
| PubMedID- 25227936 | Conclusion: in carefully selected aat deficiency patients with severe emphysema, elvr can be safely performed with encouraging long-lasting results. |
| PubMedID- 23821504 | Less commonly encountered obstructive lung disorders for which transplantation is occasionally performed include emphysema due to alpha-1-antitrypsin deficiency, lymphangioleiomyomatosis, and langerhans cell histiocytosis. |
| PubMedID- 25301410 | Introduction: copd and emphysema due to alpha-1 antitrypsin deficiency (aatd) are the first and fourth indications for lung transplantation worldwide, respectively. |
| PubMedID- 22791992 | In this case, sjms represents an extreme example of focal emphysema in a patient with severe aat deficiency and diffuse obstructive lung disease. |
| PubMedID- 24719685 | aat deficiency is associated with severe pulmonary emphysema and chronic obstructive pulmonary disease (copd) (3). |
| PubMedID- 24325216 | The most frequent pre transplant diagnoses were chronic obstructive pulmonary disease (copd) of 38%, idiopathic pulmonary fibrosis (ipf) of 20% and alpha-1 antitrypsin deficiency with emphysema (a1at) of 18%. |
| PubMedID- 22500781 | Augmentation therapy was first approved by the united states food and drug administration (fda) in 1987 for emphysema associated with severe aatd and today, six augmentation therapy preparations, all of which derive from pooled human plasma, have received fda approval. |
| PubMedID- 25412116 | These results change the paradigm of the mechanism of aatd-induced emphysema from a pure elastase-antielastase imbalance to a much more complex one involving the adaptive immune system, similarly to what occurs in usual copd. |
| PubMedID- 22356581 | However, the development of copd and emphysema in subjects with aat deficiency is highly variable and is likely influenced by modifier genes and environmental factors [2-4]. |
| PubMedID- 20301692 | Although reported, emphysema in children with aatd is extremely rare. |
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