What are the common symptoms of alpha1-antitrypsin deficiency (AATD) at initial presentation?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Answer

Not all the population with AAT deficiency (AATD) develops attributable disease. [2] The presentation of disease depends on the type of mutation associated with AATD However, most of the symptoms secondary to AATD are limited to the respiratory system. [1] Liver diseases such as cirrhosis and chronic hepatitis are the result of the abnormal accumulation of AAT within the hepatocytes and hepatoma, and emphysema due to loss of the proteolytic protection of the lung are the two major clinical presentations of AATD of the PiZZ type. Less common associations are panniculitis and an increase in the association of cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis. [5]

The initial symptoms of alpha1-antitrypsin deficiency include cough, sputum production, and wheezing. Symptoms are initially intermittent, and, if wheezing is the predominant symptom, patients often are told they have asthma. If recurrent episodes of cough are most prominent, patients may be treated with multiple courses of antibiotics and evaluated for sinusitis, postnasal drip, or gastroesophageal reflux.

Dyspnea is the symptom that eventually dominates AATD (84%). [1]

Similar to other forms of emphysema, the dyspnea of AATD is initially evident only with strenuous exertion. Over several years, it eventually limits even mild activities.


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