biochimica clinica

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CASI CLINICI – Case Reports

Volume:

Biochimica Clinica 2016; 40(3) e22-e26

Pubblicato on-line:

Luglio 28, 2016

DOI:

10.19186/BC_2016.018

Scarica in PDF:

Discordance between phenotype and genotype study in Factor V Leiden carriers: a real life experience

AUTORI

Gianluca Gessoni1,2, Sara Valverde1, Francesca Gessoni2, Fabio Manoni3
1Servizio di Medicina di Laboratorio
2Servizio Trasfusionale, Ospedale di Chioggia (VE)
3Dipartimento di Patologia Clinica, Monselice (PD)

ABSTRACT

Factor V Leiden (FVL) mutation causes activated protein C (APC) resistance by decreasing the susceptibility of FVa to APC-mediated inactivation. In our Laboratory, the usual approach to the identification of FV deficit includes a combination of genetic and functional tests. The aim of this paper was to highlight the importance to investigate both the genotype and the phenotype in the diagnosis of FVL-APC resistance related thrombophilia. Among a group of 292 subjects examined for thrombophilia, we observed three patients with discordant results of genetic test for the detection of G1691A FV gene mutation and functional APCr assay: the first subject has a mild APC resistance with a wild type genotype; the second one, and her sister, shows a severe APC resistance with a heterozygous genotype. To determine the FV deficit, it is important to associate the molecular analysis of G1691A mutation with the APC resistance test.

BIBLIOGRAFIA