Recurrent arteriovenous fistula thrombosis: The role of genetic mutations and hyperhomocysteinemia – a clinical case

Abstract

Thrombophilia denotes an increased predisposition to the formation of blood clots within blood vessels, stemming from genetic or acquired abnormalities in the hemostasis system. The challenge of establishing durable vascular access for hemodialysis in patients is compounded by various detrimental factors affecting the vascular wall, with vascular wall remodeling and hemostasis system disruptions being paramount among them. This clinical case report outlines our findings in a rare instance of recurrent thrombosis in an arteriovenous fistula. The objective of this study is to present a clinical case involving repeated arteriovenous fistula thrombosis in a patient with chronic kidney disease, exacerbated by a confluence of hyperhomocysteinemia and mutations in hemostasis-related genes: F13A1 (103G>T) (heterozygous carrier of blood coagulation factor XIII), FGB-fibrinogen (455G>A) (heterozygous carrier of coagulation factor I), and Serpin1 (PAI-1) (675 5G>4G) (homozygous carrier of tissue plasminogen activator antagonist). Additionally, we aim to illustrate the diagnostic exploration for coagulopathy causes in cases of chronic recurrent thrombosis, emphasizing the importance of utilizing modern genetic tests for diagnosing thrombophilias and urging healthcare professionals to consider these advanced diagnostic possibilities.

Keywords

• chronic kidney disease, arterio-venous fistula, coagulopathy, thrombophilia, genetic analysis.