Guidance for the evaluation and treatment of hereditary and acquired thrombophilia

Abstract

Thrombophilias are hereditary and/or acquired conditions that predispose patients to thrombosis. Testing for thrombophilia is commonly performed in patients with venous thrombosis and their relatives; however such testing usually does not provide information that impacts management and may result in harm. This manuscript, initiated by the Anticoagulation Forum, provides clinical guidance for thrombophilia testing in five clinical situations: following 1) provoked venous thromboembolism, 2) unprovoked venous thromboembolism; 3) in relatives of patients with thrombosis, 4) in female relatives of patients with thrombosis considering estrogen use; and 5) in female relatives of patients with thrombosis who are considering pregnancy. Additionally, guidance is provided regarding the timing of thrombophilia testing. The role of thrombophilia testing in arterial thrombosis and for evaluation of recurrent pregnancy loss is not addressed. Statements are based on existing guidelines and consensus expert opinion where guidelines are lacking. We recommend that thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner, and only in circumstances where the information obtained will influence a decision important to the patient, and outweigh the potential risks of testing. Testing should not be performed during acute thrombosis or during the initial (3-month) period of anticoagulation.

Thrombophilia with an onset symptom of intracranial venous thrombosis: A case report and review of the literature

“…Screening is generally not recommended for the general population. However, a number of specific indications are recommended for screening initiated by the Anticoagulation Forum (9), these include i) idiopathic or recurrent venous thromboembolism, ii) a family history of venous thromboembolism, specifically first-degree relatives with an early onset of venous thromboembolism, iii) recurrent miscarriage (>3), iv) thrombosis during perinatal period or following the use of oral contraceptives or estrogen replacement therapy (9), v) neonates with visceral thrombosis, fulminant purpura and hemorrhagic skin necrosis, vi) venous thromboembolism in uncommon sites such as the brain, liver, mesentery or renal vein, vii) younger patients (<40 years) with early onset venous thromboembolisms and viii) thrombosis or skin necrosis during warfarin therapy. However, for patients with malignant cancer, screening for thrombophilia is generally not recommended, because such patients receive long-term anticoagulation therapy (18).…”

“…Babinski's sign was bilaterally positive, demonstrated by an over-extension and fanning of the toes following stimulation, while a negative result would Thrombophilia with an onset symptom of intracranial venous thrombosis: A case report and review of the literature be a normal flexion of the toes. White blood cell count was 26.14x10 9 /l (normal range: 3.5-9.5x10 9 /l) and neutrophils 14.79x10 9 /l (normal range: 1.8-6.3x10 9 /l). A number of the values observed from the blood lipid profile and liver enzyme examinations, completed as routine administration on admission, were elevated, as follows: aspartate aminotransferase 190.5 U/l (normal range: 13-35 U/l), alanine aminotransferase 587.7 U/l (normal range: 7-40 U/l), γ-glutamyl transpeptidase 115.4 U/l (normal range: 7-45 U/l), triglycerides 7.65 mmol/l (normal range: 0.28-1.80 mmol/l), however, the high density lipoprotein 0.73 mmol/l (normal range: 0.76-2.10 mmol/l) indicated a normal value.…”

Utility of thrombophilia testing in patients with venous thrombo-embolism

“…For instance, it is not recommended by guidelines (4)(5)(6)(7) to perform the thrombophilia screen in the setting of venous thrombosis in patients with clearly established risk factors such as recent surgery or active malignancy. The most recent guideline (6) also suggests that thrombophilia screen not be performed on patients with unprovoked VTEs, as results of this screen do not alter the management strategy. This is reflected on the American College of Chest Physicians (ACCP) guideline (7), where it is recommended to treat patients with unprovoked VTEs with long-term anticoagulation.…”

Frequency of Inherited Thrombophilia Gene Polymorphism in Women With Reproductive Health Disorders

“…2). Считается, что сочетанное носительство протромботических полимор-физмов, особенно FV и FII (0,2 %), существенно повышает риск развития тромбозов и осложне-ний репродуктивного здоровья [9].…”