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What You Should Know About Abnormal Blood Clotting - Pathology

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Deadly <strong>Pathology</strong>/Killer <strong>Blood</strong> Clots<br />

Roger S. Riley, M.D., Ph.D.<br />

8<br />

Table IV<br />

Laboratory Assays for Thrombotic Disorders*<br />

<strong>Abnormal</strong>ity Coagulation Laboratory Assays Molecular Assays<br />

Antiphospholipid antibody Screen - Activated partial thromboplastin None<br />

syndrome<br />

time (aPPT)($25). Confirmation - dilute<br />

Russell Viper Venom assay (dRVVT)($100)<br />

Factor V Leiden APC resistance ($250) Factor V Mutation Assay ($325)<br />

Prothrombin G20210A<br />

mutation<br />

None<br />

Prothrombin G20210A mutation<br />

($325)<br />

Homocysteine abnormalities Plasma homocysteine levels ($175) MTHFR mutation ($325)<br />

Antithrombin III deficiency Antithrombin III function and levels ($200) None<br />

Protein C deficiency Protein C function and levels ($425) None<br />

Protein S deficiency Protein S function and levels ($375) None<br />

Increased factor VIII Factor VIII activity ($175) None<br />

Increased plasminogen Plasminogen activity and levels ($415) None<br />

Plasminogen Activator PAI-1 inhibitor assay ($230)<br />

None<br />

Inhibitor-1<br />

* The most common abnormalities are listed first. The approximate cost is only a guide; laboratory costs may<br />

vary considerably.<br />

Most deficient individuals presenting with thrombosis are managed acutely with heparin therapy, followed by long<br />

term oral anticoagulant therapy. Commercially prepared concentrates are available for use post-surgically and<br />

during parturition in AT III deficient individuals. Protein C concentrates are available on a compassionate use<br />

basis.<br />

Summary<br />

Thromboembolic diseases are presently the leading cause of death, and responsible for more than 1,000,000<br />

deaths/year in the United States alone. Fortunately, thromboembolic disease is preventable, and many recent<br />

scientific discoveries have lead to the ability to estimate a person’s disease risk, so that appropriate preventive<br />

therapy can be instituted. Most doctors agree that persons who have a strong family history of thromboembolic<br />

disease or who develop thrombosis at an early age (i.e.,

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