Case Author(s): Thomas H. Vreeland, M.D. and Keith Fischer MD , 08/24/91 . Rating: #D2, #Q3

Diagnosis: Alpha -1 Antitrypsin Disease

Brief history:

This patient is a 51 year old man being evaluated for possible lung transplantation.

Images:

Xenon Ventilation Images

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View second image(vq). Perfusion Images

Full history/Diagnosis is available below

Diagnosis: Alpha -1 Antitrypsin Disease

Full history:

This patient is a 51 year old man with alpha-1 antitrypsin disease being evaluated for lung transplantation or possible "volume-reduction" surgery. The patient has had gradual decline in pulmonary function. Currently, the patient is without signs or symptoms of infection.

Findings:

CXR (not shown): Severe emphysema with marked distortion of the pulmonary vascularity, predominantly in the lower lobes and right middle lobe. There is relative compression of upper lung tissue.

Ventilation Xenon ventilation washin images demonstrate hypoventilation of the middle and lower lung zones bilaterally, with relative sparing of the upper lung zones. Washout images demonstrate corresponding areas of retension.

Perfusion: Perfusion images demonstrate a similar pattern, with marked hypoperfusion of the middle and lower lung zones bilaterally and relative sparing of both upper lung zones.

Discussion:

(1) Alpha-1 Antitrypsin Deficiency - Rare Autosomal Recessive Disorder

- Alpha-1 Antitrypsin is a glycoprotein synthesized in the liver and released in the serum.

- Injury occurs because the deficiency of alpha-1 antitrypsin prevents the neutralization of proteolytic enzymes released by alveolar macrophages and neutrophiils within the lung. These enzymes, especially elastase, destroy the basement membrane.

- Early Age of Onset (20 -30 years of age)

- M:F = 1:1

- Typical findings includ bullae at both lung bases with flattening of the diaphrams. Upper lung zones are generally unaffected.

(2) Quantitation revealed slightly greater ventilation and perfusion of the left lung compared to the right. Marked discrepancy would have affected the choice of which lung to replace, if unilateral lung transplantation were to be performed.

Differential Diagnosis List

This pattern is classic for alpha-1 antitrypsin disease. However, chronic obstructive pulmonary disease with bibasilar predominance from any etiology could have a similar appearance.

ACR Codes and Keywords:

References and General Discussion of Ventilation Perfusion Scintigraphy (Anatomic field:Lung, Mediastinum, and Pleura, Category:Organ specific)

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Case number: vq004

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