Alpha1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British thoracic association

doi:10.1016/S0009-9260(82)80297-3

Clinical Radiology

Volume 33, Issue 4, January–November 1982, Pages 371-377

https://doi.org/10.1016/S0009-9260(82)80297-3 Get rights and content

In a multicentred survey of alpha₁-antitrypsin deficiency, radiological details have been obtained in 165 subjects homozygous for Pi type Z and in 23 subjects heterozygous for type SZ. Eight-five per cent of all type Z subjects had radiological evidence of pulmonary emphysema which was commoner in smokers than in those who had never smoked and which predominantly affected the lower zones of the lungs; 66% of the type Z subjects identified through family studies also had emphysema. Emphysema in subjects of Pi type SZ was limited to those who had smoked; this phenotype may not carry a specific risk of emphysema.

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Cited by (57)

Thoracic CT Imaging in AATD
2017, Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies
Computed tomography (CT) has shown variability in the lung disease that occurs with alpha-1-antitrypsin deficiency (AATD). Basal emphysema has been the predominant recognized classical phenotype. CT has demonstrated that the pattern of emphysema is more varied and often involves the upper areas of the lung, thus a mixed phenotype is more common in AATD. Bronchiectasis has also been identified by CT in a proportion of AATD subjects suggesting that this is unlikely to be a coincidental finding. CT lung densitometry is also a useful parameter for a quantitative assessment of emphysema and is being used in clinical trials to measure responses to therapy.
Alpha-1-Antitrypsin Deficiency: Epidemiological Studies and Other AATD Associated Diseases
2017, Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies
Alpha-1-antitrypsin deficiency (AATD) is a relatively common but under-recognized condition that predisposes to lung disease (e.g., emphysema, chronic bronchitis, and bronchiectasis), liver disease (e.g., chronic hepatitis, cirrhosis, and hepatocellular carcinoma), and skin disease (i.e., panniculitis). AATD has also been associated with vasculitis [especially anticytoplasmic antibody-positive vasculitides like granulomatosis with polyangiitis (GPA), previously called Wegener’s granulomatosis].
This chapter will first discuss the overall prevalence of AATD and the evidence that AATD is under-recognized. The clinical manifestations of individuals with AATD will then be reviewed, with the discussion of each organ system involvement addressing the epidemiology; clinical features, including signs and symptoms and associated laboratory features; natural history; and prognosis. Where appropriate, the specific clinical manifestations associated with particular genotypes are discussed. The most common clinical sequelae—lung and liver disease—are discussed first, followed by a discussion of panniculitis, vasculitis, and a brief discussion of other clinical conditions for which associations with AATD have been speculated but not confirmed.
Alpha-1 antitrypsin deficiency
2011, Respiratory Medicine CME
Citation Excerpt :
In the lung, emphysema is the most common manifestation. The emphysema associated with AAT deficiency tends to be early in onset (i.e., in the fourth and fifth decades), panacinar in pathology and disproportionate in its effect on the lung bases (compared to the more apical distribution in AAT replete patients).6–8 Evidence for the association of bronchiectasis with AAT deficiency is mixed.
To review the topic of alpha-1 antitrypsin (AAT) deficiency.
Narrative literature review.
Much work has been carried out on this condition with many questions being answered but still further questions remain.
AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review.
Alpha-1 antitrypsin deficiency
2010, Respiratory Medicine
Citation Excerpt :
In the lung, emphysema is the most common manifestation. The emphysema associated with AAT deficiency tends to be early in onset (i.e., in the fourth and fifth decades), panacinar in pathology and disproportionate in its effect on the lung bases (compared to the more apical distribution in AAT replete patients).6–8 Evidence for the association of bronchiectasis with AAT deficiency is mixed.
To review the topic of alpha-1 antitrypsin (AAT) deficiency.
Narrative literature review.
Much work has been carried out on this condition with many questions being answered but still further questions remain.
AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review.
Assessment of regional progression of pulmonary emphysema with CT densitometry
2008, Chest
Lung densitometry is an effective method to assess overall progression of emphysema, but generally the location of the progression is not estimated. We hypothesized that progression of emphysema is the result of extension from affected areas toward less affected areas in the lung. To test this hypothesis, a method was developed to assess emphysema severity at different levels in the lungs in order to estimate regional changes.
Fifty subjects with emphysema due to α₁-antitrypsin deficiency (AATD) [AATD deficiency of phenotype PiZZ (PiZ) group] and 16 subjects with general emphysema (general emphysema without phenotype PiZZ [non-PiZ] group) were scanned with CT at baseline and after 30 months. Densitometry was performed in 12 axial partitions of equal volumes. To indicate predominant location, craniocaudal locality was defined as the slope in the plot of densities against partitions. Regional progression of emphysema was calculated after volume correction, and its slope identifies the area of predominant progression. The hypothesis was tested by investigating the correlation between predominant location and predominant progression.
As expected, the PiZ patients showed more basal emphysema than the non-PiZ group (craniocaudal locality, − 40.0 g/L vs − 6.2 g/L). Overall progression rate in PiZ patients was lower than in non-PiZ subjects. A significant correlation was found between craniocaudal locality and progression slope in PiZ subjects (R = 0.566, p < 0.001). In the non-PiZ group, no correlation was found.
In the PiZ group, the more emphysema is distributed basally, the more progression was found in the basal area. This finding suggests that emphysema due to AATD spreads out from affected areas.
Lung Volume Reduction Surgery in Patients With Emphysema and α-1 Antitrypsin Deficiency
2007, Annals of Thoracic Surgery
Citation Excerpt :
For example, in contrast to the roughly even gender distribution of subjects in the National Heart, Lung, and Blood Institute AAT Registry [11], 80% of AAT-deficient NETT participants were male. Also, although the typical panlobular emphysema of AAT deficiency more commonly involves the lung bases [12–15] in NETT, 70% of AAT-deficient subjects undergoing LVRS had upper-lobe-predominant emphysema. A recent detailed CT analysis of PI*ZZ subjects by Parr and colleagues [13], for example, indicated that 64% demonstrated basal predominance of emphysema and that only 36% had upper-lobe-predominant emphysema.
The role of lung volume reduction surgery (LVRS) for individuals with α-1 antitrypsin (AAT) deficiency is unclear.
To assess the role of LVRS in individuals with severe deficiency of AAT, outcomes within the National Emphysema Treatment Trial were analyzed.
Of 1218 randomized subjects, 16 (1.3%) had severe AAT deficiency (serum level < 80 mg/dL) and a consistent phenotype (when available). Characteristics of these 16 patients include 87.5% male; median serum AAT level, 55.5 mg/dL; age, 66 years; forced expiratory volume in 1 second (FEV₁), 27% predicted; and 50% had upper-lobe-predominant emphysema. All 10 subjects randomized to LVRS underwent the procedure. Although the small number of subjects hampered statistical analysis, 2-year mortality was higher with surgery (20% versus 0%) than with medical treatment. Comparison of outcomes between the 10 AAT-deficient and the 554 AAT-replete subjects undergoing LVRS showed a greater increase in exercise capacity at 6 months in replete subjects and a trend toward lower and shorter duration FEV₁ rise in deficient individuals.
This study extends to 49 cases the published experience of LVRS in severe AAT deficiency. Although the small number of subjects precludes firm conclusions, trends of lower magnitude and duration of FEV₁ rise after surgery in AAT-deficient versus AAT-replete subjects and higher mortality in deficient individuals randomized to surgery versus medical treatment suggest caution in recommending LVRS in AAT deficiency.

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^*: This study was coordinated by Dr D. C. S Hutchison on behalf of a subcommittee of the Research Committee of the British Thoracic Association. Members of the subcommittee were: Professor J. G. Scadding (Chairman), Mr G. Berry, Dr P. J. L. Cook, Professor C. M. Fletcher (resigned 1979), Dr E. A. Hills (resigned 1980), Dr D. C. S. Hutchison, Dr S. J. Pearce, Dr G. M. Sterling and Professor M. Turner-Warwick (resigned 1975).

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Alpha1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British thoracic association*

Broncho-pulmonary derangements in non-smokers

American Review of Respiratory Disease

Distribution of pulmonary perfusion in erect man

Journal of Applied Physiology

Smoking habits and age in relation to pulmonary changes: rupture of alveolar septums, fibrosis and thickening of walls of small arteries and arterioles

New England Journal of Medicine

Alpha1-antitrypsin deficiency in non-smokers

American Review of Respiratory Disease

The genetics of alpha1-antitrypsin: a family study in England and Scotland

Annals of Human Genetics

Studies in alpha1-antitrypsin deficiency

Acta Medica Scandinavica

Serum prealbumen: polymorphism in man

Science

Alpha1-antitrypsin: common sub-types of Pi M

Human Heredity

A survey of alpha1-antitrypsin deficiency by the British Thoracic Association

Bulletin Europeen Physiopathologie Respiratoire

Protease inhibitors

Severe pulmonary emphysema: a comparison of patients with and without alpha1-antitrypsin deficiency

Quarterly Journal of Medicine

Alpha₁-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British thoracic association*

Alpha₁-antitrypsin deficiency in non-smokers

The genetics of alpha₁-antitrypsin: a family study in England and Scotland

Studies in alpha₁-antitrypsin deficiency

Alpha₁-antitrypsin: common sub-types of Pi M

A survey of alpha₁-antitrypsin deficiency by the British Thoracic Association

Severe pulmonary emphysema: a comparison of patients with and without alpha₁-antitrypsin deficiency