Navigating the Challenges of Factor X Deficiency: A Case Study

TL;DR

This case study highlights the challenges of diagnosing and managing Factor X deficiency, a rare clotting disorder, through a patient's symptoms and lab results.

Contribution

The paper presents a real-world case of FX deficiency and underscores the importance of early diagnosis for effective patient and family management.

Findings

A 47-year-old female with FX deficiency showed symptoms like gum bleeding and abnormal PT/INR values.

Early diagnosis of FX deficiency is crucial for patient care and family screening.

FX deficiency disrupts the clotting cascade, leading to excessive bleeding.

Abstract

The clotting pathway involves intrinsic and extrinsic pathways converging into a common pathway. These pathways require activated factors that sequentially convert prothrombin to thrombin, which then converts fibrinogen to fibrin, forming a stable clot. Clotting factor deficiency impairs this cascade leading to excessive bleeding or bruising due to insufficient clot formation. Here, we present the case of a 47-year-old female who initially complained of epigastric pain. By the third day of admission, she experienced four to five episodes of bleeding gums, resulting in a blood loss of approximately 300 mL. The patient exhibited abnormal prothrombin time (PT) and international normalized ratio (INR) values, leading to a diagnosis of Factor X (FX) deficiency upon further evaluation. This case report emphasizes the need to diagnose coagulopathies such as FX deficiency and how early diagnosis will help not only in patient care and management but also in screening family members who may be affected.