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GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency

Bruno Balbi
Breathe 2014 10: 87-89; DOI: 10.1183/20734735.000414
Bruno Balbi
Divisione di Pneumologia, Riabilitativa, Fondazione Salvatore, Maugeri, I.R.C.C.S., Via Revislate 13, 28010 Veruno, Novara, Italy
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    Figure 1

    Characteristic chest computed tomography showing bibasilar bronchiectasis and chest radiograph showing bibasilar emphysema.

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    Figure 2

    Example of a spirometric curve showing severe airflow limitation. The patient, a 58-year-old male with a history of 50 pack-years, had reduced forced expiratory volumes (post-bronchodilator forced expiratory volume at 1 second <30% predicted) and thus was in GOLD Stage IV (very severe COPD). He also had chronic respiratory failure (partial pressure of oxygen in arterial blood at rest on room air of 49 mmHg) requiring longterm oxygen therapy and a reduced (52% predicted) diffusion for CO.

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    Figure 3

    Serum protein electrophoresis of the patient in figure 2 showing markedly reduced α-1 globulin band. As most of α-1 globulins are formed by AAT, such a finding is most probably the sign of an underlying AATD, that can be ascertained by the determination of peripheral blood AAT levels, usually by nephelometry. This determination should be performed while the subject has no acute inflammatory reaction ongoing, as this can falsely increase the levels of AAT; alternatively C-reactive protein as a marker of an ongoing inflammatory condition can be co-determined to rule out falsely increased AAT levels. Reduced AAT levels associated with lung and/or liver diseases can be found in homozygous (e.g. ZZ) or double heterozygous (e.g. ZRare) patients. Intermediate levels can be found in heterozygous (e.g. MZ) individuals. The patient had 51 mg·dL−1 of serum AAT (reference values 90–200) and his genotype was ZZ.

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GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency
Bruno Balbi
Breathe Mar 2014, 10 (1) 87-89; DOI: 10.1183/20734735.000414

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GPs Meet Rare Lung Disorders Task Force factsheet: α-1 antitrypsin deficiency
Bruno Balbi
Breathe Mar 2014, 10 (1) 87-89; DOI: 10.1183/20734735.000414
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