A 47-Year-Old With Progressive Dyspnea and Weepy Nodules

Dora E. Izaguirre, MD; Jesus Lanza, MD

Disclosures

November 19, 2021

Discussion

AATD should be suspected in any person who presents with early-onset emphysema or chronic obstructive pulmonary disease (COPD), regardless of his or her smoking history. In patients with AATD, liver function test results are elevated; however, this abnormality is not specific in these patients. AATD is an autosomal codominant disease; therefore, the family history of similar symptoms in this patient suggests the possibility of AATD. C-ANCA vasculitis has been systematically associated with AATD.[1]

This patient presented with an AAT level of 10 µmol/L. AAT levels below 11 µmol/L are consistent with AATD; however, low AAT levels alone have low sensitivity for the diagnosis of AATD.[2,3]

Standard pulmonary tests play an important role in determining the severity of lung disease, which is characterized by increased total lung capacity, reduced FEV1, and reduced FEV1/FVC ratio. This patient presented a FEV1 of 1.82 L (52% of predicted), with an FEV1/FVC ratio that was 68% of predicted.

The chest radiograph in this patient revealed hyperlucent areas in bilateral lower lobes; flattening of diaphragms may also be observed.[3] High-resolution CT (HRCT) of the chest revealed middle- and lower-lobe emphysema. In patients with mild forms of AATD, this finding may be missed on HRCT. However, in patients with moderate or severe forms of AATD, loss of lung basal parenchyma hyperlucencies are characteristic. Panacinar emphysema with predominantly lower-lobe distribution is a classic finding in patients with AATD; however, in severe forms, it might be indistinguishable from centrilobular emphysema.

A diagnosis of AIH is unlikely because the usual presentation is in young women with no family history of similar symptoms. In addition, in patients with AIH, serum antinuclear antibody or anti–smooth-muscle antibody findings are positive, and AAT levels and phenotype are within normal limits.

Chronic bronchitis is unlikely because the patient's clinical history does not include sputum production for at least three months per year for two consecutive years. In addition, AAT levels and phenotype are normal in chronic bronchitis.

Bronchiectasis is unlikely because patients present with a chronic history of respiratory symptoms (eg, cough with thick mucopurulent sputum production), and HRCT findings in these patients include bronchial wall thickening and luminal dilatation. In addition, AAT levels and phenotype are normal in bronchiectasis.

Granulomatosis with polyangiitis, previously known as "Wegener granulomatosis," is unlikely because positive C-ANCA results are not specific for this diagnosis. In addition, granulomatosis with polyangiitis presents as a vasculitic syndrome that predominantly affects the kidney, lungs, and upper airway and also has blood test findings, radiographic findings, and biopsy results that differ from those in patients with AATD.

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