Optimal alpha-1 antitrypsin level cutoffs for genotype identification in patients with chronic liver disease

Controversy exists whether alpha-1 antitrypsin (A1AT) genotype testing should be performed as a first-line screening for A1AT heterozygous variants. METHODS: We calculated the median and interquartile range of A1AT level for each genotype in 4378 patients with chronic liver disease and “miss rate” o...

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Detalles Bibliográficos
Autores principales: Prakash, Sameer, Murali, Arvind R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019232/
https://www.ncbi.nlm.nih.gov/pubmed/37133851
http://dx.doi.org/10.1097/HC9.0000000000000023
Descripción
Sumario:Controversy exists whether alpha-1 antitrypsin (A1AT) genotype testing should be performed as a first-line screening for A1AT heterozygous variants. METHODS: We calculated the median and interquartile range of A1AT level for each genotype in 4378 patients with chronic liver disease and “miss rate” of MZ genotype identification at various cutoff levels. FINDINGS: Significant overlap in A1AT level noted with Pi*MM, MZ, and MS variants. Miss rate of Pi*MZ at a cutoff level <100 was 29%, <110 was 18%, <120 was 8%, and <130 was 4%. We suggest simultaneous measurement of A1AT level and genotype in patients with chronic liver disease.

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