Logo American Journal of Case Reports

Call: 1.631.629.4328
Closed: National Holiday

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

02 November 2017 : Case report  Italy

Recurrent Thrombosis: A Case of Hereditary Thromboembolism

Unusual or unexpected effect of treatment, Diagnostic / therapeutic accidents, Congenital defects / diseases

Maria Concetta Giofrè1E*, Francesca Napoli1B, Daniela La Rosa1C, Alessia Caruso1G, Natascia Laganà1D, Lucia Orlando Settembrini2C, Antonino Saitta1F, Antonio Giovanni Versace1A

DOI: 10.12659/AJCR.906035

Am J Case Rep 2017; 18:1157-1159

Abstract

BACKGROUND: Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene.

CASE REPORT: A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing. These tests showed homozygous 4G/4G polymorphism of the PAI-1 gene in 14 subjects, homozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 4 subjects, and heterozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 3 subjects. Afterwards, we initiated the administration of Rivaroxaban, with beneficial results.

CONCLUSIONS: No thrombotic recurrence has been observed in the patient since 2014. This case report shows the efficacy and superiority of Rivaroxaban over traditional anticoagulants in the treatment of hereditary thrombophilia. Further studies are clearly needed before Rivaroxaban can be recommended as a standard treatment in patients with inherited thrombophilia.

Keywords: Anticoagulants, Factor X, Polymorphism, Restriction Fragment Length

Add Comment 0 Comments

In Press

Case report  Congo, the Democratic Republic of the

A Rare Case of Hyperglycemia, Ketoacidosis, and Central Facial Paralysis in a Newly-Diagnosed Diabetic Woman

Am J Case Rep In Press; DOI: 10.12659/AJCR.942425  

Case report  China (mainland)

Intracranial Parasitic Fetus in a Living Infant: A Case Study with Surgical Intervention and Prognosis Anal...

Am J Case Rep In Press; DOI: 10.12659/AJCR.944371  

Case report  Jordan

Blue Toe Syndrome in Behçet’s Disease: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.943813  

Case report  South Korea

A Rare Case of Stroke in a 76-Year-Old Woman: Left Atrial Papillary Fibroelastoma as the Culprit

Am J Case Rep In Press; DOI: 10.12659/AJCR.943568  

Most Viewed Current Articles

07 Mar 2024 : Case report  USA 38,232

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

10 Jan 2022 : Case report  Germany 31,087

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia 17,703

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

23 Feb 2022 : Case report  USA 17,653

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923