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[Evaluating the origin of thrombophilia: indications and implementation]
F Demarmels Biasiutti1, B Lämmle
1Hämatologisches Zentrallabor, Universität, Inselspital, Bern.
Therapeutische Umschau. Revue Therapeutique
|December 1, 1992
Summary
Deep vein thrombosis (DVT) affects about one in a thousand people annually. Risk factors include age, surgery, and certain medical conditions, necessitating thorough evaluation for secondary or hereditary thrombophilia.
Area of Science:
- Hematology
- Vascular Medicine
- Genetics
Context:
- Deep vein thrombosis (DVT) incidence is approximately one per thousand annually.
- Risk factors for DVT include advanced age, immobilization, surgery, pregnancy, oral contraceptives, and malignancy.
- Specific conditions like homocystinuria, nephrotic syndrome, lupus erythematosus, and hematological disorders increase thrombotic risk.
Purpose:
- To outline the evaluation of patients presenting with thromboembolism.
- To differentiate between secondary thrombophilic states and primary or hereditary thrombophilia.
- To identify genetic predispositions to venous thromboembolism.
Summary:
- Patient evaluation for thromboembolism requires detailed history, clinical examination, and laboratory tests to rule out secondary causes.
- Primary thrombophilia is suspected in young patients (<45 years) with recurrent or familial venous thromboembolism.
- Hereditary thrombophilia can result from deficiencies in antithrombin III, protein C, protein S, or plasminogen, identified in 10-30% of idiopathic cases.
Impact:
- Facilitates accurate diagnosis and risk stratification for patients with thromboembolic events.
- Highlights the importance of genetic screening for hereditary thrombophilia in specific patient populations.
- Contributes to understanding the multifactorial etiology of thrombosis, where causes remain unknown in many instances.