Work

An Uncommon Case of Siblings With Homozygous Prothrombin G20210A Pathological Variant Expressing as Unique Manifestations

Year: 2025

Type: article

Abstract: Heterozygous carriers of the prothrombin gene G20210A pathogenic variant (PV), with a 1.7% to 3% prevalence, experience a 3-fold increase in risk for thrombosis. Homozygosity for the prothrombin G20210A PV is much less common, with a prevalence of 0.014%, and further increases the risk for thrombosis, although data is insufficient to predict the increased likelihood. While venous thrombi and pulmonary emboli (PE) are common manifestations of this PV, portal vein thrombosis (PVT) and neuropsychiatric disorders are uncommon manifestations. We present a pair of siblings who are homozygous for this prothrombin G20210A PV.

Source: Annals of Internal Medicine Clinical Cases

DOI: 10.7326/aimcc.2024.0541

Authors: Tyler Tepfenhart, Chakrapani Pathikonda, Tauqeer Yousuf

Institution: Texas A&M University

Language: English

Topic: Blood Coagulation and Thrombosis Mechanisms

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407120722

FWCI:

Cites: 11

Cited by:

Related to: 10