Alpha 1-antitrypsin deficiency laboratory tests: Difference between revisions

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{{Alpha 1-antitrypsin deficiency}}
{{Alpha 1-antitrypsin deficiency}}
{{CMG}} {{AE}}
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==Overview==
==Overview==
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[[Category:Needs content]]
[[Category:Gastroenterology]]
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[[Category:Genetic disorders]]
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[[Category:Pulmonology]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Inborn errors of metabolism]]
[[Category:Metabolic disorders]]
[[Category:Overview complete]]
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Latest revision as of 15:26, 1 June 2016

Alpha 1-antitrypsin deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Alpha 1-antitrypsin deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

Laboratory Findings

The diagnosis of alpha-1 AT deficiency should be suspected in any patient who:

  1. Develops emphysema younger than 45 years old, if they are a non/minimal smoker, or if they have primarily basilar disease OR
  2. Has a history of panniculitis or
  3. Has or has a family history of unexplained liver disease (especially cirrhosis or hepatoma).
  • In suspected individuals the initial step is to measure the serum alpha-1 AT concentration.
  • In general, phenotyping should be reserved for patients who have low or borderline low alpha-1 AT levels.
  • PFTs-pulmonary function tests (spirometry pre and post bronchodilators, lung volumes and diffusing capacity),
  • LFTs (liver function test)
  • ABG-arterial blood gases (usually)

References


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