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PB3402 Hereditary Factor X Deficiency: Phenotypic Variability and Management within a Familial Cluster

Year: 2026

Type: conference-abstract

Abstract: Factor X (FX) is a vitamin K-dependent glycoprotein essential for the propagation of thrombin generation. Inherited FX deficiency is an exceptionally rare autosomal recessive bleeding disorder (estimated prevalence: 1/1000000). Clinical severity typically correlates with plasma FX levels, categorized by the European Network of Rare Bleeding Disorders (ENRBD) as severe (<10%), moderate (10–40%), and mild (>40%). Diagnosis is characterized by the simultaneous prolongation of prothrombin time (PT) and activated partial thromboplastin time (aPTT), correcting with normal plasma.

Source: Research and Practice in Thrombosis and Haemostasis

DOI: 10.1016/j.rpth.2026.106021

Authors: María de la Paz Domínguez, Pablo Lagrotta, Anabel Mediavilla, Ana Gabriela Octaviano, Sergio Gómez, Silvia Mónaco, Cecilia Riccheri

Institution: Hospital Posadas

Language: English

Topic: Hemophilia Treatment and Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,250

OpenAlex ID: W7220376993

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