Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Abstract

Inherited thrombophilia is an important cause of venous thrombosis. The Factor V Leiden (FVL) is the most commonly encountered mutation, followed by the prothrombin G20210A gene mutation (PTM). The typical venous thrombotic events (VTEs) associated with PTM mutations are deep vein thrombosis (DVT) and pulmonary embolisms (PE). The PTM is inherited in an autosomal dominant pattern with variable penetrance. While heterozygous PTM mutations are more frequent and well documented in the literature, rare cases of homozygous PTM mutations are also reported. In this report, we discuss a 56-year-old male with a past medical history of homozygous prothrombin gene mutation (G20210A) who presented with an unprovoked DVT of the right lower extremity involving both the proximal and distal veins associated with multiple bilateral PEs. This case is unique in terms of the homozygous PTM inheritance, the age at which the patient presented (usually presentation is earlier in life), and the fact that he had a recurrence of both DVT and PE simultaneously.

Internal Carotid Artery Dissection With Thrombosis in a Child With Prothrombin Gene Mutation

“…Although prothrombin gene mutation (G20210A) is an important cause of venous thrombosis, its role in arterial thrombosis remains uncertain. It is inherited in an autosomal dominant pattern [ 19 ], and causes an increased production of prothrombin. It is crucial to identify the presence of genetic mutations in a pediatric patient presenting with stroke to provide prompt treatment, prevent recurrences, and educate on the risk of thrombosis in family members [ 20 ].…”

Acute Headache, Aphasia, and Prosopagnosia: Case Report in a Young Adult

“…8 Specifically, the prothrombin gene G20210A mutation causes 3 times increased risk of venous thrombosis. 9,10 Additional inherited forms of thrombophilia include protein C and protein S deficiencies, antithrombin III deficiency, hyperhomocysteinemia, elevated lipoprotein A, and the presence of antiphospholipid antibodies. 2,11 Our patient was heterozygous for prothrombin gene G20210A mutation.…”

Mesenteric Ischemia in a Splenectomized Patient with Auto-Immune Hemolytic Anemia: Case Report

“…Deficiency in protein S, Factor 5 Leiden mutation, and Prothrombin G2021A mutation can further increase the risk of thrombosis. These genetic alterations affect the normal functioning of coagulation factors and predispose individuals to abnormal clot formation [ 15 , 16 ].…”