Recurrent Thrombosis: A Case of Hereditary Thromboembolism

Abstract

Patient: Female, 56Final Diagnosis: Hereditary thombophiliaSymptoms: DyspneaMedication: —Clinical Procedure: —Specialty: HematologyObjective:Congenital defects/diseasesBackground: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.

The Use of Rivaroxaban for Unprovoked Pulmonary Embolism in the Setting of Antithrombin Deficiency

“…Adverse effects of DOACs were reported following initiation of rivaroxaban in two patients with protein S deficiency [6]. Otherwise, no other complications were seen on followup in patients with a thrombophilia treated with a factor Xa inhibitor, with no adverse effects noted in any patients with AT deficiency [7][8][9][10][11].…”

Cerebral vein thrombosis associated with MTHFR A1289C mutation gene in a young postpartum woman

“…Patients with CVT have low mortality rates, 5.6% in the acute phase and 9.4% after 12 months) [ 16 , 17 ]. A review of 13 studies comparing CVT patients to the general population highlighted the increased risk of pregnancy-related recurrent thrombosis, while the risk spontaneous miscarriage remained low [ 18 ].…”

Arterial thrombosis in a newborn with homozygous plasminogen activator inhibitor‐1 4G/4G polymorphism

“…1 Dysregulations in certain single-nucleotide polymorphisms, including homozygosity for the 4G allele, have been associated with increased PAI-1 activity and thrombosis in adults and children. [2][3][4][5][6][7][8][9][10] We present the case of a newborn male who developed hypoxia during his first day of life. His echocardiogram revealed severe aortic coarctation, significant left ventricular systolic dysfunction, and a large arterial thrombus extending from the aortic isthmus into the left subclavian and right innominate arteries (Figure 1).…”