Abstract
The treatment of hereditary and acquired thrombophilic disorders is based on an understanding
of the disease pathophysiology, prevalence, associated morbidity and mortality, and
available therapeutic options. Genetic mutations are identified that result in activated
protein C (APC) resistance and hyperhomocyst(e)inemia. The underlying etiologies are
less well-defined; however, the disorders of factor XII deficiency, dysfibrinogenemia,
Wien-Penzing platelet defect, and sticky platelet syndrome (SPS) are treatable inherited
thrombophilias. Antithrombin deficiency, protein C and protein S deficiencies, and
plasminogen deficiency are disorders both inherited and acquired. Antiphospholipid
antibodies, myeloproliferative syndromes, and Trousseau's syndrome are acquired. Treatment
for acute arterial thrombosis or venous thromboembolism is the same or similar for
all thrombophilic disorders. Long-term management is based on the risk of a primary
or recurrent acute thrombotic event, compared with the risk of the proposed therapy.
Few blinded, controlled studies are available to validate treatment recommendations.
When long-term anticoagulation is advised, careful consideration should be given to
the risk associated with therapy. Bleeding risk, variable efficacy, and the risk of
cutaneous necrosis limit the use of warfarin. Fixed low-dose unfractionated porcine
heparin and low-molecular-weight heparins (LMWH) offer significant advantages for
long-term management. These recommendations are derived from an analysis of the pertinent
medical literature and are expected to change with the progress of clinical and laboratory
investigation.
Keywords:
Thrombophilia - thrombosis - anticoagulation - antithrombotic therapy
