Alpha₁-Antitrypsin and Alpha₁-Antitrypsin Phenotyping

Alpha₁-Antitrypsin and Alpha₁-Antitrypsin Phenotyping is a topic covered in the Davis's Lab & Diagnostic Tests.

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General

Synonym/Acronym:

Alpha1-antitrypsin: A1 AT, alpha1-AT, AAT; alpha1-antitrypsin phenotyping: A1 AT phenotype, alpha1-AT phenotype, AAT phenotype, Pi phenotype.

Rationale

To assist in the identification of chronic obstructive pulmonary disease (COPD) and liver disease associated with alpha1-antitrypsin (alpha1-AT) deficiency.

Patient Preparation

There are no food, fluid, or activity restrictions unless by medical direction. Oral contraceptives should be withheld 24 hr before the specimen is collected, although this restriction should first be confirmed with the health-care provider (HCP) ordering the test.

Normal Findings

Method: Nephelometry for alpha1-AT, isoelectric focusing/high-resolution electrophoresis for alpha1-AT phenotyping.

Alpha1-Antitrypsin

AgeConventional UnitsSI Units (Conventional Units × 0.01)
Newborn145–270 mg/dL1.45–2.7 g/L
Child110–157 mg/dL1.1–1.579 g/L
Adult100–190 mg/dL1–1.9 g/L

Alpha1-Antitrypsin Phenotyping

There are three major protease inhibitor phenotypes:

  • MM—Normal
  • SS—Intermediate; heterozygous
  • ZZ—Markedly abnormal; homozygous

The total level of measurable alpha1-AT varies with genotype. The effects of alpha1-AT deficiency depend on the patient’s personal habits but are most severe in patients who smoke tobacco.

Critical Findings and Potential Interventions

N/A

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General

Synonym/Acronym:

Alpha1-antitrypsin: A1 AT, alpha1-AT, AAT; alpha1-antitrypsin phenotyping: A1 AT phenotype, alpha1-AT phenotype, AAT phenotype, Pi phenotype.

Rationale

To assist in the identification of chronic obstructive pulmonary disease (COPD) and liver disease associated with alpha1-antitrypsin (alpha1-AT) deficiency.

Patient Preparation

There are no food, fluid, or activity restrictions unless by medical direction. Oral contraceptives should be withheld 24 hr before the specimen is collected, although this restriction should first be confirmed with the health-care provider (HCP) ordering the test.

Normal Findings

Method: Nephelometry for alpha1-AT, isoelectric focusing/high-resolution electrophoresis for alpha1-AT phenotyping.

Alpha1-Antitrypsin

AgeConventional UnitsSI Units (Conventional Units × 0.01)
Newborn145–270 mg/dL1.45–2.7 g/L
Child110–157 mg/dL1.1–1.579 g/L
Adult100–190 mg/dL1–1.9 g/L

Alpha1-Antitrypsin Phenotyping

There are three major protease inhibitor phenotypes:

  • MM—Normal
  • SS—Intermediate; heterozygous
  • ZZ—Markedly abnormal; homozygous

The total level of measurable alpha1-AT varies with genotype. The effects of alpha1-AT deficiency depend on the patient’s personal habits but are most severe in patients who smoke tobacco.

Critical Findings and Potential Interventions

N/A

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