Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.

Abstract:

OBJECTIVES: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. METHODS: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. RESULTS: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. CONCLUSIONS: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.

journal_name

Am J Clin Pathol

authors

Suh-Lailam BB,Procter M,Krautscheid P,Haas J,Kumar S,Mao R,Grenache DG

doi

10.1309/AJCPR7EIQS8PIMLV

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

742-6

issue

5

eissn

0002-9173

issn

1943-7722

pii

141/5/742

journal_volume

141

pub_type

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