Thrombophilia resident survival guide

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anahita Deylamsalehi, M.D.[2]

Synonyms and keywords:Approach to thrombophilia, Thrombophilia workup, Thrombophilia diagnostic approach

Overview

Thrombophilia is defined as a predilection for clot formation (thrombosis). It could be inherited/genetical or acquired, nevertheless most of the time thrombophilia is due to an interplay between both inherited and acquired factors. Protein C deficiency is the most common cause of inherited thrombophilia. This clot formation tendency can lead to venous or arterial thrombus formation and subsequent conditions such as pulmonary embolism, deep venous thrombosis, pregnancy loss, severe pre-eclampsia, myocardial infarction and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added and patients with more than one inherited/genetical defects carry higher chance of thrombus formation. symptoms are generally depended on organ that is involved.

Causes

Known causes of thrombophilia include:

• Protein C deficiency (most common cause of inherited hypercoagulable state)
• Prothrombin gene mutation such as Prothrombin G20210A, which is the second most common cause of inherited hypercoagulable state
• Factor V Leiden
• Protein S deficiency
• Antithrombin deficiency or antithrombin reduction due to liver disease and/or severe malnutrition
• Medications such as combined oral contraceptives, bevacizumab, lenalidomide, asparaginase, erythropoietin, raloxifene, tamoxifen, tranexamic acid, heparin, ethinylestradiol and hormone replacement therapy
• Elevation in some coagulation factors such as VII, VIII, IX and XI
• Dysfibrinogenemia
• Hyperhomocysteinemia and Methylenetetrahydrofolate mutation
• Plasminogen deficiency
• Elevated Lipoprotein(a)
• Klinefelter syndrome
• Polycythemia vera
• Paroxysmal Nocturnal Hemoglobinuria
• Sickle cell disease
• Chronic renal insufficiency
• Systemic lupus erythematosus
• Pregnancy
• Antiphospholipid Syndrome
• Malignancy

Diagnosis

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Treatment

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Do's

• Do thrombophilia plasma tests at least 6 months after the acute thrombotic episode due to effect of acute thromboembolic event on these tests. Moreover, since oral anticoagulants given after acute thrombotic episode affect the results of testing for protein C, protein S, and activated protein C resistance (APC resistance), it is recommended to do laboratory tests at least 2 weeks after oral anticoagulants discontinuation.
• Test first degree relatives of a patient with confirmed genetical etiology of thrombophilia.

Don'ts

• Don't run genetical or antigen detecting tests as screening for thrombophilia.

References

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