Inherited thrombophilia: Diagnostic approach

Abstract

Hemostatic abnormalities include both bleeding and thrombosis disorders. Adherence to most common guidelines for the diagnosis of thrombophilia is recommended especially in some developing countries. High level of orientation to thrombophilic disorders needs wide spectrum of knowledge about the causes, primary or secondary, investigations to most common risk factors, selecting candidates to investigations, in addition to covering the possibility of multifactorial background of disease. Limited data are available that focus on the thrombophilic disorders with imperfect diagnostic cooperation between clinical and laboratory aspects to reach the full picture of these hemostatic abnormalities. In this short review of literature, we considered the most important publications that assessed the inherited thrombophilia at levels of presentation, diagnosis, and management with focus on the practical side. The aim of this review is to summarize the most important aspects of the thrombophilia presentation, inherited causes, indications for testing, and investigations required for thrombophilic patients.

Keywords

• Inherited thrombophilia
• laboratory investigations of thrombophilia
• thromboembolism