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

Brenda B. Suh-Lailam, Melinda Procter, Patti Krautscheid, Jason Haas, Shiva Kumar, Rong Mao, David G. Grenache*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)742-746
Number of pages5
JournalAmerican journal of clinical pathology
Volume141
Issue number5
DOIs
StatePublished - May 1 2014

Keywords

  • AAT
  • Genotype
  • M
  • Phenotype
  • α-antitrypsin deficiency

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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