Factor V east Texas variant causes bleeding in a three-generation family.

ABSTRACT:

Background

The factor V east Texas bleeding disorder (FVETBD) is caused by increased plasma tissue factor pathway inhibitor-α (TFPIα) concentration. The underlying cause is a variant in F5 causing alternative splicing within exon 13 and producing FV-short, which tightly binds the C-terminus of TFPIα, prolonging its circulatory half-life.

Objectives

To diagnose a family presenting with variable bleeding and laboratory phenotypes.

Patients/methods

Samples were obtained from 17 family members for F5 exon 13 sequencing. Plasma/platelet TFPI and platelet FV were measured by ELISA and/or western blot. Plasma thrombin generation potential was evaluated using calibrated automated thrombography.

Results

The FVET variant was identified in all family members with bleeding

SUBMITTER: Peterson JA 

PROVIDER: S-EPMC8885967 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature