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Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans. [ 3 ] [ 4 ] [ 5 ] It is named after the Dutch city of Leiden , where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrik Reitsma. [ 6 ]
ICD-10 coding number Diseases Database coding number Medical Subject Headings Disseminated intravascular coagulation (DIC, defibrination syndrome) Protein C deficiency: Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. [83] Protein S deficiency: Factor V Leiden: Thrombocytosis: Idiopathic thrombocytopenic ...
In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30–50% have the defect. The prothrombin mutation occurs at rates of 1–4% in the general population, 5–10% of people with thrombosis, and 15% of people referred for thrombophilia testing.
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The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5] Other genetic causes include Factor V Cambridge (VThr306) and the factor V HR2 haplotype (A4070G mutation). [5] [6] Acquired forms of APC resistance occur in the presence of elevated Factor VIII concentrations.
ICD-9 chapters; Chapter Block Title I 001–139: Infectious and Parasitic Diseases II 140–239: Neoplasms III 240–279: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders IV 280–289: Diseases of the Blood and Blood-forming Organs V 290–319: Mental Disorders VI 320–389: Diseases of the Nervous System and Sense Organs ...
The normal clotting process depends on the interplay of various proteins in the blood. Coagulopathy may be caused by reduced levels or absence of blood-clotting proteins, known as clotting factors or coagulation factors. Genetic disorders, such as hemophilia and Von Willebrand disease, can cause a reduction in clotting factors. [2]
Fibrinogen and its Aα fibrin chain have several functions in this process: [4] [10] [13] [14] Blood clotting: fibrinogen concentration is the rate-limiting factor in blood clot formation and along with blood platelets is critical to this formation (see Coagulation).