What's new in haemostasis and coagulation? Part I - The rise and fall of thrombophilia testing

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The field of haemostasis represents an ever-developing landscape. This review is the first in a series that plans to appraise recent changes and initiatives within the area of haemostasis and related laboratory test practice. The subject of the current review is thrombophilia and its associated tests of haemostasis. In brief, haemostasis describes the mechanism whereby our bodies maintain blood flow in the circulation. Defects in haemostasis can give rise to either a tendency towards bleeding (e.g. as in haemophilia) or towards thrombosis. Both have adverse outcomes related to morbidity and mortality. Thrombophilia describes the condition whereby a predisposition towards thrombosis exists, and this can have an acquired and/or hereditary (i.e.genetic) basis. The modern specialized haemostasis laboratory has an armatorium of tests that can be performed to assess patients defined to have 'thrombophilia', and consequently, mutations, polymorphisms, defects, deficiencies and/or exaggerated levels of various haemostasis related components can now be identified in many investigated patients. Nevertheless, there is limited clinical utility in this knowledge, since management generally comprises standardized care irrespective of laboratory findings. Moreover, there is a high likelihood of determining false positive findings within thrombophilia investigations that globally cautions against indiscriminant testing, and suggesting that testing patients for thrombophilia in the current clinical request landscape is actually doing patients more harm than good.

Original languageEnglish
Pages (from-to)131-139
Number of pages9
JournalAustralian Journal of Medical Science
Issue number4
Publication statusPublished - Nov 2011


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