Emphysema with hereditary alpha-1 antitrypsin deficiency masquerading as asthma

Makino, Sohei; Chosy, L. W.; Valdivia, Enrique; Reed, Charles E.

doi:10.1016/0021-8707(70)90060-2

Cited by 26 publications

(12 citation statements)

References 20 publications

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“…The most consistent difference is the much earlier age at which dyspnoea develops, usually in the third decade. The youngest recorded case is 22 years (Makino, Chosy, Valdivia, and Reed, 1970). In the present series the mean age at onset of dyspnoea was only 35 years; four-fifths of the patients in the deficient group were dyspnoeic before the age of 40 years and all before the age of 50 years.…”

Section: Resultscontrasting

confidence: 52%

Alpha1 antitrypsin deficiency and pulmonary emphysema

Jones

Thomas

1971

Thorax

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An association between a genetically determined deficiency of the serum enzyme al antitrypsin and pulmonary emphysema is now well established. Serum antitryptic activity was measured in 103 patients suspected of having emphysema. Eighty-seven fulfilled the diagnostic criteria for emphysema and, of these, 16 had deficient levels, 5 had intermediate levels, and 66 had normal levels. The results of clinical, radiographic, and physiological studies in each group were then compared. Characteristic features noted in the deficient group included onset of dyspnoea during the third or fourth decades and uniformly symmetrical radiographic lower zone involvement. Other factors such as sex distribution, cigarette smoking, and chronic bronchitis are discussed.Sixty-eight relatives of the 16 patients with deficient levels were also studied. The findings in these are compatible with an autosomal recessive mode of inheritance although difficulties in identifying the heterozygous state were encountered. Six relatives had deficient levels and of these three had emphysema.Emphysema is most commonly diagnosed in men with chronic bronchitis in the fifth or sixth decades (Talamo, Blennerhassett, and Austen, 1966 This paper presents the findings in a selected series of patients attending the Brompton Hospital with chronic respiratory disease in whom levels of serum antitryptic activity were estimated. DIAGNOSIS OF EMPHYSEMAEmphysema is defined on an anatomical basis as a disease characterized by structural changes in the lung causing increase, beyond the normal range, in the size of air spaces distal to terminal bronchioles (Scadding, 1969). In life, however, histopathological specimens are not usually available and therefore the diagnosis depends on clinical, radiological, and physiological criteria. For the purpose of this study the following radiological and physiological criteria were adopted, the former having been shown to be strongly correlated with moderate to severe emphysema (Reid and Millard, 1964): 1. Radiological (Simon, 1964).

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Section: Resultscontrasting

confidence: 52%

Alpha1 antitrypsin deficiency and pulmonary emphysema

Jones

Thomas

1971

Thorax

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“…It has been reported that asthmatics with deficiency phenotypes have an earlier onset and are more likely to require steroid treatment [4,16,18], In the present study, the a|AT defi ciency was equally present in the atopic and nonatopic asthmatics. Similar to our study, Szczeklik et al [4] have found that defi ciency of aiAT occurred with equal fre quency in extrinsic and intrinsic asthma, whereas other studies [8,[19][20][21][22] found that the patients with a|AT deficiency suffered from extrinsic asthma.…”

Section: Discussionsupporting

confidence: 72%

Alpha-1-Antitrypsin Variants in Bronchial Asthma in Kuwait

El-Shirbiny¹,

Karnik

Diab

et al. 1989

Med Principles Pract

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Serum α₁-antitrypsin (α₁AT) levels and protease inhibitor (PI) phenotypes were determined in 176 patients with bronchial asthma. The results were compared with 121 nonasthmatic controls. In the bronchial asthma group, 144 patients (81.8%) had M phenotype, compared to 118 (97.5%) in the controls. Severe deficiency of α₁AT associated with Z phenotype were found in 18 patients (10%), compared to 2 (1.6%) in the controls. Intermediate deficiency associated with MZ and FZ phenotypes were found in 9 (5%) patients with bronchial asthma. MS phenotype was found in 2, MI in 2, and FM in 1 patient with bronchial asthma. The severely deficient group of asthmatics with Z phenotype was found to be heterogenous in clinical presentation. When compared to the asthmatic patients with M phenotype, no statistically significant difference was found between the two groups regarding the type of asthma, severity of the disease, steroid dependency, smoking habits or age at onset. The finding that deficient phenotpyes were more frequent in the asthmatic group suggests that this may be an important contributing factor in the development of bronchial asthma. Exaggerated immunologic and inflammatory responses in such patients, together with the harsh environmental conditions prevailing in Kuwait, may lead to the development of bronchial asthma in subjects deficient in α₁AT.

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“…It has been suggested that early signs of airflow obstruction in some with alpha 1-antitrypsin deficiency presents as clinical asthma (19,20). Identification of these "hidden" cases would allow early genetic counseling, identification of affected family members and provide therapeutic options such as augmentation therapy.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Alpha-1 Antitrypsin Deficiency in Poorly Controlled Asthma—Results from the ALA-ACRC Low-Dose Theophylline Trial

et al. 2007

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In a study comparing low-dose theophylline to montelukast in poorly controlled asthmatics, 285 subjects consented to be screened for alpha-1 antitrypsin deficiency. Of the 284 for which complete data was available, 10.5% carried a deficiency gene and 2.4% were mildly deficient with an alpha-1 antitrypsin serum level of less than 20 mu M. In the non-African-American cohort, an abnormal phenotype occurred in 12% and 2.9% were mildly deficient. Baseline pulmonary function and asthma scores were not significantly different between those with normal and abnormal AAT phenotype. However those with the deficiency tended to show a greater bronchodilator response.

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Emphysema with hereditary alpha-1 antitrypsin deficiency masquerading as asthma

Cited by 26 publications

References 20 publications

Alpha1 antitrypsin deficiency and pulmonary emphysema

Alpha1 antitrypsin deficiency and pulmonary emphysema

Alpha-1-Antitrypsin Variants in Bronchial Asthma in Kuwait

Prevalence of Alpha-1 Antitrypsin Deficiency in Poorly Controlled Asthma—Results from the ALA-ACRC Low-Dose Theophylline Trial

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