Related Experiment Video

Updated: Oct 17, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Intracardiac thrombosis in a case of Behcet's disease associated with the prothrombin 20210G-A mutation

A Vayá1, M J Forner, A Estellés

  • 1Thrombosis and Hemostasis Unit, Dept. of Clinical Pathology, La Fe University Hospital, Avda. Campanar 21, 46009 Valencia, Spain.

Haematologica
|April 11, 2000
PubMed

Insights

Behçet's disease patients have a higher risk of thrombosis. A rare case links Behçet's disease with a prothrombin gene mutation, potentially explaining intracardiac thrombosis in this patient.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Rheumatology

Background:

  • Behçet's disease (BD) is a multisystem vasculitis associated with a 20-30% risk of thrombosis.
  • The exact mechanisms driving thrombotic events in BD remain unclear.
  • Intracardiac thrombi are exceptionally rare manifestations of venous thrombosis in BD.

Observation:

  • This report details an unusual case of a young patient diagnosed with Behçet's disease.
  • The patient presented with a rare right intracardiac thrombus.
  • Genetic analysis revealed the presence of the 20210G-A prothrombin gene mutation.

Findings:

  • The co-occurrence of Behçet's disease and the 20210G-A prothrombin gene mutation was identified.
  • This specific genetic mutation is a known prothrombotic factor.
  • The combination of BD and this mutation is hypothesized to contribute to thrombotic events.

Implications:

  • This case highlights a potential genetic predisposition for thrombosis in certain Behçet's disease patients.
  • The 20210G-A prothrombin gene mutation may play a significant role in the pathogenesis of rare thrombotic events in BD.
  • Further research into genetic factors in BD-associated thrombosis is warranted.

Related Concept Videos

Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
Venous Thrombosis I: Introduction01:30

Venous Thrombosis I: Introduction

Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Venous Thrombosis III: Interprofessional Care01:29

Venous Thrombosis III: Interprofessional Care

Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...