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The molecular genetics of familial venous thrombosis
No full textIn the past few years, important advances have been made in the identification of factors predisposing to familial thrombophilia. Particular attention has been paid to the characterization of known inherited defects and their genotype-phenotype relationship, and to studying the interaction between single or multiple inherited conditions and acquired risk factors for venous thrombosis. The recent discovery of 'new' and very common genetic lesions predisposing to thrombosis has greatly expanded the interest in this field. Hereditary predisposition to venous thrombosis may be related to lesions in one or more of 10-15 genes encoding antithrombin, Protein C, Protein S, Factor V, prothrombin, enzymes of the homocysteine metabolic pathway, fibrinogen, heparin cofactor II, plasminogen and thrombomodulin. About 500 different gene lesions (substitutions, deletions, insertions) have so far been reported to affect these genes in patients with thrombotic disease. Because there are potentially multiple interactions between genetic and environmental factors, familial thrombophilia is now considered to be a multifactorial disease. The aim of this chapter is to review aspects of the molecular genetics of familial thrombophilia. In particular, those gene/protein defects for which there is convincing evidence of an association with familial thrombosis will be examined in detail
Who should be tested for thrombophilia?Review
No full textRECENT FINDINGS:
Recent studies have clearly defined the risk of venous thromboembolism in members of families with inherited thrombophilia. Meta-analyses have shown the role of the most common thrombophilic conditions in increasing the risk of recurrent venous thromboembolism in carriers. Screening for thrombophilia in venous thromboembolism patients might help identify those at higher risk of recurrences even though it is unclear how this information can be of use in modifying their management. Thrombophilia seems to play a role in early fetal losses as also shown in women at their first intended pregnancy, which makes it interesting to screen women after only one bad pregnancy outcome.
SUMMARY:
Screening for thrombophilia can be performed particularly in young patients with venous thromboembolism. Carriers of inherited thrombophilia are at increased risk of venous thromboembolism recurrences. Screening families of venous thromboembolism patients with thrombophilia allows the identification of still asymptomatic carriers who may benefit from thromboprophylaxis. This may be true of women in fertile age belonging to thrombophilic families. In thrombophilic women with pregnancy complications prophylaxis may be offered to prevent recurrences
Risk of recurrent venous thromboembolism and thrombophilia: does discrepancy make complexity or vice versa?
No full textUpper extremity deep vein thrombosis
No full textUpper extremities deep venous thrombosis (UEDVT) is a rare condition. According to the literature, approximately 4-10% of all cases of venous thrombosis may involve the subclavian, axillary or brachial veins. In the last few decades, the incidence of UEDVT has increased because of more frequent use of central venous catheters (CVCs) and cardiac pacemaker implantation. In addition, another common risk factor for UEDVT is cancer. UEDVT is classified as primary, approximately one-third of cases, which refers either to effort thrombosis or idiopathic UEDVT, or secondary, due to the presence of overt predisposing causes. The onset of UEDVT is usually characterized by arm swelling and pain, but may also be completely asymptomatic especially in patients with a long-term presence of a CVC. Ultrasonography represents a simple and accurate diagnostic tool to demonstrate the problem. UEDVT has major clinical consequences including pulmonary embolism, recurrences, post-thrombotic syndrome, and death. The role of thromboprophylaxis for those patients with a long-term CVC is still controversial. Unfractionated or low molecular weight heparin, followed by an oral anticoagulant are the most common treatments, with strategy of management similar to that of deep vein thrombosis of the leg. Thrombolysis/thrombectomy and surgical decompression are often successful, but less frequently used. Randomized controlled trials are warranted to clarify the optimal management of UEDVT, and to identify patients at the highest risk of recurrence who might benefit from long-term anticoagulation
Homozygous factor V-deficient patients show resistance to activated protein C whereas heterozygotes do not.
No full textAppropriateness of choice and interpretation of tests for thrombophilic defects: a practical experience
No full textBACKGROUND:
The use of laboratory coagulation tests in some fields of primary medicine is not well defined in available guidelines. In Italy, general practitioners tend to lack a thorough understanding of the utility of knowledge of coagulation inhibitors.
METHODS:
We reviewed the clinical conditions for which outpatients have been referred to our laboratory for antithrombin testing or for inherited thrombophilia tests panels over a 3-week period. Evidence-based guidelines were used to identify the appropriate requests.
RESULTS:
Numerous unnecessary tests were requested for both antithrombin and thrombophilia, particularly in obstetric and gynaecological situations in the setting of hormonal contraceptive treatment.
CONCLUSIONS:
Laboratory specialists must improve upon their communication with physicians in order to achieve an appropriate use of coagulation tests
Peculiar rocket profile in the electroimmunoassay of protein-S-deficient plasma: a clue to diagnosis?
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