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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

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