Alpha1-Antitrypsin Deficiency Questions & Answers

Updated: Mar 13, 2018
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Questions & Answers

Overview

What is the historical background of alpha1-antitrypsin deficiency (AATD)?

What is alpha1-antitrypsin deficiency (AATD)?

What is the pathophysiology of alpha1-antitrypsin deficiency (AATD)?

How common is alpha1-antitrypsin deficiency (AATD)?

What is the biochemical activity of alpha1-antitrypsin deficiency (AATD)?

How is antiprotease dysfunction characterized in alpha1-antitrypsin deficiency (AATD)?

What is the role of antiprotease deficiency in alpha1-antitrypsin deficiency (AATD)?

What is the role of environmental exposures in the etiology of alpha1-antitrypsin deficiency (AATD)?

What is the role of genetic factors in the etiology of alpha1-antitrypsin deficiency (AATD)?

How common is alpha1-antitrypsin deficiency (AATD) in the US?

What is the global prevalence of alpha1-antitrypsin deficiency (AATD)?

What are the race-related demographics of alpha1-antitrypsin deficiency (AATD)?

Is alpha1-antitrypsin deficiency (AATD) more common in men or women?

What are the age-related demographics of alpha1-antitrypsin deficiency (AATD)?

What is the prognosis of alpha1-antitrypsin deficiency (AATD)?

Which factors portend a poor prognosis in alpha1-antitrypsin deficiency (AATD)?

What are the mortality and morbidity rates of alpha1-antitrypsin deficiency (AATD)?

What is involved in the patient education on alpha1-antitrypsin deficiency (AATD)?

Presentation

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

What is the clinical history of alpha1-antitrypsin deficiency (AATD)?

What are physical exam findings in alpha1-antitrypsin deficiency (AATD)?

What are the complications of alpha1-antitrypsin deficiency (AATD)?

DDX

What are the differential diagnoses for Alpha1-Antitrypsin Deficiency?

Workup

What are the approach considerations in the workup of alpha1-antitrypsin deficiency (AATD)?

What is the role of serum alpha1-antitrypsin measurement in the workup of alpha1-antitrypsin deficiency (AATD)?

Which lab studies are indicated in the workup of alpha1-antitrypsin deficiency (AATD)?

When is phenotyping indicated in the workup of alpha1-antitrypsin deficiency (AATD)?

When is a functional assay of alpha1-antiprotease indicated in the workup of alpha1-antitrypsin deficiency (AATD)?

How is alpha1-antitrypsin deficiency (AATD) characterized in chest X-rays?

How is alpha1-antitrypsin deficiency (AATD) characterized in high-resolution CT (HRCT) scanning of the chest?

Which pulmonary function tests are indicated in the workup of alpha1-antitrypsin deficiency (AATD)?

What are the histologic findings in alpha1-antitrypsin deficiency (AATD)?

How is alpha1-antitrypsin deficiency (AATD) staged?

Treatment

When is transfer indicated for patients with alpha1-antitrypsin deficiency (AATD)?

What is the goal of alpha1-antitrypsin deficiency (AATD) management?

What is the role of smoking cessation in the treatment of alpha1-antitrypsin deficiency (AATD)?

How is lung function improved in patients with alpha1-antitrypsin deficiency (AATD)?

How are respiratory infections prevented in patients with alpha1-antitrypsin deficiency (AATD)?

What are the benefits of pulmonary rehab in patients with alpha1-antitrypsin deficiency (AATD)?

What are the benefits of supplemental oxygen in patients with alpha1-antitrypsin deficiency (AATD)?

How are deficient enzymes replaced in the treatment of alpha1-antitrypsin deficiency (AATD)?

What are the benefits of IV augmentation therapy for the treatment of alpha1-antitrypsin deficiency (AATD)?

What are the recommendations for the use of IV augmentation therapy for the treatment of alpha1-antitrypsin deficiency (AATD)?

How effective is IV augmentation therapy for the treatment of alpha1-antitrypsin deficiency (AATD)?

What novel therapies are being investigated for the treatment of alpha1-antitrypsin deficiency (AATD)?

What is the role of volume-reduction surgery in the treatment of alpha1-antitrypsin deficiency (AATD)?

What is the role of lung transplantation in the treatment of alpha1-antitrypsin deficiency (AATD)?

What is the role of liver transplantation in the treatment of alpha1-antitrypsin deficiency (AATD)?

Which specialist consultations are recommended for the treatment of alpha1-antitrypsin deficiency (AATD)?

What are the dietary recommendations in the management of alpha1-antitrypsin deficiency (AATD)?

What are the activity recommendations in the treatment of alpha1-antitrypsin deficiency (AATD)?

How is alpha1-antitrypsin deficiency (AATD) prevented or minimized?

What is involved in the long-term monitoring of alpha1-antitrypsin deficiency (AATD)?

Guidelines

When is diagnostic testing for alpha1-antitrypsin deficiency (AATD) indicated?

What are the guidelines for the management of alpha1-antitrypsin deficiency (AATD)?

What are the general management recommendations on obstructive lung disease in alpha1-antitrypsin deficiency (AATD)?

What are the SEPAR recommendations on alpha1-antitrypsin deficiency (AATD)?

Medications

What is the drug treatment for alpha1-antitrypsin deficiency (AATD)?

Which medications in the drug class Respiratory enzymes are used in the treatment of Alpha1-Antitrypsin Deficiency?