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Subject Area

Internal Medicine

Article Type

Original Study

Abstract

Objective The aim of this study was to carry out a systematic review to summarize diagnosis and management of thrombophilia in adults. Data sources In September 2016, Medline, articles in Medscape, AAFP and PubMed were searched. Study selection The initial search presented 250 articles. Only six articles met the inclusion criteria. The selected articles covered thrombophilia clinical presentation, investigation to confirm the diagnosis, and management in adults. Data extraction Data from each eligible study were independently abstracted in duplicate using a data collection form to capture information on study characteristics, interventions, and quantitative results reported for each outcome of interest. Data synthesis There was heterogeneity in the collected data. It was not possible to perform meta-analysis. Significant data were collected and then a structured review was carried out. Conclusion Six articles were reviewed, five articles and one systematic review, summarizing the clinical presentation investigation and testing of thrombophilia. Patients with thrombophilia presented with deep vein thrombosis and pulmonary embolism, usually occuring in the legs, characterized by pain, swelling, and heaviness due to damage in the veins. Testing of thrombophilia include protein C, protein S, factor V Leiden, antithrombin III, prothrombin G 20210 mutation, and hyperhomocystenemia. Other factors include elevated factor VIII, elevated factor XI, dysfibrinogenemia, factor XII defeciency, and plasminogen defeciency. As soon as the diagnosis is made, vitamin K antagonist (e.g., warfarin) should be added to heparin. Monitoring of anticoagulation is carried out by the prothrombin time, expressed in terms of international normalized ratio.

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