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

Dora E. Izaguirre, MD; Jesus Lanza, MD


November 19, 2021

Preventing or slowing the progression of lung disease is the primary focus of treatment. As such, discouraging smoking and treating asthma and respiratory infection is important.

Replacing or supplementing the deficient enzyme in patients with plasma AAT levels less than 11 µmol/L is recommended. Most patients are identified after they develop lung disease; the aim of treating AATD emphysema is similar to that associated with any form of emphysema. Patients who also have liver disease must be considered for potential complications.

Volume reduction surgery, as well as lung and liver transplantation, should be offered to patients with advanced disease who do not appropriately respond to medical management.

Annual pulmonary function monitoring allows for better counseling and planning for interventions, such as initiation of replacement therapy (if not already started) or transplantation. Annual influenza vaccination is recommended, as is pneumococcal vaccination every 5 years. Liver function should be periodically monitored in all individuals with the PiZZ genotype. For those with established liver disease, monitoring with ultrasonography every 6-12 months is recommended to detect fibrotic changes and carcinoma.

Complications in patients with AATD are similar to those in patients with COPD and emphysema associated with cigarette smoking. These include acute exacerbation of airflow obstruction, pneumothorax, pneumonia, and respiratory failure.

In patients with AATD that was diagnosed on screening, the prognosis is often similar to that of healthy people. In contrast, patients whose disease was diagnosed on the basis of clinical manifestations have a more limited prognosis.

Upon further investigation of the patient in this case, phenotype ZZ was determined. AAT replacement therapy was started. The patient's symptoms improved dramatically, and further visits have been scheduled to follow up on the evolution of his disease.


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