Inherited thrombotic disorders: an update.

S R Florell; G M Rodgers

doi:10.1002/(sici)1096-8652(199701)54:1<53::aid-ajh8>3.0.co;2-3

Home/Archive/PubMed

PubMed · 8980261

Inherited thrombotic disorders: an update.

S R Florell·G M Rodgers

View original source ↗Export metadata ↓

Abstract

Significant advances in identification of etiologies of inherited thrombosis have been recently reported. A point mutation in coagulation factor V (factor V Leiden) results in resistance to activated protein C and probably represents the most common genetic risk factor for venous thrombosis. A metabolic disorder, homocysteinemia, is now known to be an important risk factor for both arterial and venous thrombosis. Many patients with recurrent thrombosis will have more than one genetic risk factor identified. Recognition of these new disorders should permit a diagnosis to be achieved in at least half of patients evaluated for inherited thrombosis.

Explore related subjects

Antithrombin III Deficiency Blood Coagulation Factor V Female Homocysteine Humans Male Point Mutation Protein C Protein S Thrombosis Journal Article Research Support, U.S. Gov't, Non-P.H.S.Review

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

S R Florell, G M Rodgers. 1997. Inherited thrombotic disorders: an update.. https://doi.org/10.1002/(sici)1096-8652(199701)54%3A1%3C53%3A%3Aaid-ajh8%3E3.0.co%3B2-3

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Factor V Leiden mutation, deficiency of antithrombin III and elevation of factor VIII in a child with ischemic stroke: a case report.

A 4-year-old boy was admitted with left hemiplegia. Thrombophilia marker examination resulted with factor V Leiden mutation heterozygosity, a deficiency of antithrombin III and a high level of factor VIII. Cranial computed tomography scan revealed an ischemic infarct in the region of right anterior cerebral artery. In the literature, combinations of multiple thrombophilia risk factors that trigger cerebral ischemic stroke in children have been emphasized. To our knowledge, this is the first child with these combinations of thrombophilia risk factors and ischemic stroke to be reported in the literature.

Antithrombin III Deficiency↗

PubMed2006

Vena cava superior syndrome developing in a dialysis patient with antithrombin III deficiency following temporary catheterization.

Despite being widely reported in patients with neoplasms, vena cava superior (VCS) syndrome linked to thrombosis is a major catheter complication that can be encountered during the use of the hemodialysis catheter. Antithrombin III (AT-III), responsible for a large part of thrombin inactivation capacity in plasma, is the most powerful inhibitor of the thrombosis process. This report describes a case of VCS syndrome developing two weeks following the extraction of a right-sided subclavian catheter in a patient transferred from peritoneal dialysis to hemodialysis for one week due to leakage. The patient presented complaining of swelling and pain in the right arm. At Doppler examination, total thrombosis was observed in the subclavian and internal jugular vein. At advanced examinations due to lack of response to heparin and clinical worsening, VCS and AT-III deficiency were determined. Following thrombolytic therapy with streptokinase, AT-III levels were raised by the administration of plasma, and clinical and radiological stabilization was established by continuing heparin and continuous oral anticoagulant therapy.

Antithrombin III Deficiency↗

PubMed2006

Harriton, Waller And Australian negligence law: is there a place for wrongful life?

Following the decision by the Supreme Court of New South Wales in Harriton and Waller, the controversial action for wrongful life has been thrown back into the public spotlight. This article examines the legal and public policy dilemmas arising from a wrongful life claim in light of the Court of Appeal's reasons for its decision in the jointly heard cases of Harriton (by her tutor) v Stephens; Waller (by his tutor) v James; Waller (by his tutor) v Hoolahan (2004) 59 NSWLR 694 and analyses whether there is a sound doctrinal basis for recognising the claim within the Australian tort system. It will be argued that each of the legal elements comprising the claim fall squarely within the traditional tort framework and that public policy considerations favouring recognition of the claim outweigh those raised against it.

Antithrombin III Deficiency↗