02 November 2017 : Case report
Recurrent Thrombosis: A Case of Hereditary Thromboembolism
Unusual or unexpected effect of treatment, Diagnostic / therapeutic accidents, Congenital defects / diseasesMaria Concetta Giofrè1E*, Francesca Napoli1B, Daniela La Rosa1C, Alessia Caruso1G, Natascia Laganà1D, Lucia Orlando Settembrini2C, Antonino Saitta1F, Antonio Giovanni Versace1A
Am J Case Rep 2017; 18:1157-1159
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
25 May 2023 : Case reportNeuroendocrine Carcinoma of the Extrahepatic Bile Ducts: A Case Report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939239
24 May 2023 : Case reportAn Initially Missed Diagnosis of Venous Thromboembolic Phenomenon in Adult-Onset Still’s Disease: A Case Re...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939520
24 May 2023 : Case reportSuccessful Surgical Removal of a Giant Serous Ovarian Cyst in a 52-Year-Old Woman with Presurgical Body Mas...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939697
23 May 2023 : Case reportSuccessful Noninvasive Respiratory Management of an Infant with Bilateral Choanal Atresia and a Supernumera...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939642
Most Viewed Current Articles
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347