Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review. (April 2022)

• Record Type: Journal Article
• Authors: Elkattawy, Sherif; Alyacoub, Ramez; Singh, Kerry S.; Fichadiya, Hardik; Kessler, William
• Is Part Of: Journal of investigative medicine high impact case reports. Volume 10(2022)
• Publication Date: 2022-04
• Subjects: prothrombin mutation -- pulmonary embolism -- deep venous thrombosis; Internal medicine -- Periodicals; Medical care -- Periodicals; 616.005
• DOI: 10.1177/23247096211058486
• Languages: English
• ISSNs: 2324-7096

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.