Challenging Identification of a Novel PiISF and the Rare PiMmaltonZ α1-Antitrypsin Deficiency Variants in Two Patients

α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT foll...

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Published in:American journal of clinical pathology Vol. 141; no. 5; pp. 742 - 746
Main Authors: Suh-Lailam, Brenda B., Procter, Melinda, Krautscheid, Patti, Haas, Jason, Kumar, Shiva, Mao, Rong, Grenache, David G.
Format: Journal Article
Language:English
Published: England 01.05.2014
Subjects:
Adult
Algorithms
alpha 1-Antitrypsin - genetics
alpha 1-Antitrypsin Deficiency - diagnosis
alpha 1-Antitrypsin Deficiency - genetics
Female
Genotype
Humans
Male
Middle Aged
Phenotype
Pulmonary Disease, Chronic Obstructive - diagnosis
Pulmonary Disease, Chronic Obstructive - genetics
Risk
α1-Antitrypsin deficiency
Mmalton
Genotype
Phenotype
AAT
ISSN:0002-9173, 1943-7722, 1943-7722
Online Access:Get full text
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Summary:α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes. We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z. These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease.
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ISSN:0002-9173
1943-7722
1943-7722
DOI:10.1309/AJCPR7EIQS8PIMLV