Alpha 1 Antitrypsin Deficiency Medical Tests

Chest X-ray and TC

Chest radiography and computed tomography (CT) show diffuse panlobular emphysema predominantly in bases.

A quarter of the cases have associated bronchiectasis, a percentage similar to that in the COPD series. Respiratory function can vary, but most have an obstructive pattern with a decrease in FEV and the FEV / FVC ratio to more pronounced values ​​than expected by the degree of smoking, and an increase in residual volume, hyperinflation and decrease is observed. of diffusion.

Bronchodilator test

In some cases, the patient has a positive bronchodilator test that is sometimes associated with asthma, although the bronchial hyperresponsiveness associated with the ZZ phenotype darkens the prognosis of these patients.

Higher levels of inflammatory markers IL-8 and leukotriene B4 are observed during exacerbations than in COPD exacerbations without AATD, which could explain why exacerbations are frequent and can be more severe and prolonged.

Hepatic disorder in minors

Some Alpha 1 patients begin their symptoms with a liver disorder in early childhood.

This liver involvement is caused by accumulation of the Z variant of AAT in hepatocytes, although it is not known why only a small proportion of homozygous may experience disease, since in adulthood most patients have normal liver function .

Panniculitis

Another more rare clinical form is panniculitis with subcutaneous, erythematous and painful generalized nodules that can be ulcerated. To arrive at a security diagnosis in suspected cases, the steps of an algorithm can be followed.

Diagnostic algorithm for alpha-1-antitrypsin deficiency (AAT).
See the diagram for the percentage with respect to the lower limit of the reference interval.