Factor V Leiden homozygous mutation: Recurrent venous thromboembolism during periods of discontinuation of anticoagulant therapy

Sabira Šahinović,Vildana Huskić,Adis Kauković

doi:10.17532/jhsci.2021.1283

Abstract

Venous thromboembolism (VTE), also known as deep vein thrombosis and pulmonary thromboembolism, is a medical condition that has a high incidence and a multifactorial pathogenesis. One of the causes is a mutation of the Factor V Leiden (FVL), which is the most common inherited thrombotic disorder. A mutation inherited from both parents is found in about 0.05-0.5% of cases, making our case more medically interesting. We presented the case of a young male patient with recurrent VTE and few risk factors who was admitted to the hospital 4 times with VTE symptoms over a 5-year period. In the background, there was a homozygous FVL mutation and improper use of anticoagulant therapy. We examined the medical data, diagnostics, therapy, and precautions that were and are required.

Highlights

Venous thromboembolism (VTE) is a common medical condition that can lead to potentially fatal complications if not recognized and treated promptly and effectively
Hospitalizations and three pulmonary thromboembolism (PTE) confirmed by computed tomography (CT), genotyp- Several studies have shown that direct thrombin inhibitors ing revealed the presence of a homozygous Factor V Leiden (FVL) mutation. [28] and DOACs
It is crucial to recognize early symptoms and seek medical attention [7]. This is a case of a young man with homozygous FVL and a few other risk factors who suffered from repeated VTE over several years

Summary

INTRODUCTION

Venous thromboembolism (VTE) is a common medical condition that can lead to potentially fatal complications if not recognized and treated promptly and effectively. 0.05-0.5% of cases, the disease is inherited from both parents [8] Risk factors such as older age, smoking, surgery, obesity, immobility, prolonged travel, hospitalization, oral contraceptive use, hormonal replacement therapy, pregnancy, and malignancy all increase the risk of VTE in healthy people as well as those with the FVL mutation [7]. 3th hospitalization (January 2020) The patient was admitted to the cardiology department due to pain along the entire left leg, redness in the left lower leg, and right-sided chest pain with coughing up a small amount of fresh blood. Anamnestic, the patient reported one episode of the same symptoms a few months later, at the end of 2014 This time, the presence of fresh blood in the cough is accompanied by chest pain, coughing, and dyspnea.

Findings

DISCUSSION

CONCLUSION