A collection of congenital disorders in which components of the coagulation cascade are defective or absent, leading to an increased tendency to clot.<\/p>\n\n\n\n
They are more common than bleeding disorders.<\/li>
Asymptomatic cases are common.<\/li>
Most are AD.<\/li>
Prophylactic treatment is not typically given, and DVT\/PE is treated with UFH\/LMWH.<\/li><\/ul>\n\n\n\n
Types<\/h4>\n<\/span>\n\n\n
Factor V Leiden gene mutation<\/li>
Antithrombin deficiency<\/li>
Protein C deficiency<\/li>
Protein S deficiency<\/li>
Prothrombin allele G20210A<\/li>
Hyperhomocysteinaemia<\/li>
Defects of fibrinogen<\/li><\/ul>\n\n\n<\/span>\n
Factor V Leiden<\/h4>\n<\/span>\n\n\n
Also known as “activated protein C resistance”; genetic mutation in factor V causing it to become resistant to cleavage by protein C.<\/li>
Probably to reduce bleeding during labor.<\/li><\/ul>\n\n\n<\/span>\n
Antithrombin deficiency<\/h4>\n<\/span>\n\n\n
Heterozygous patients are expected to have an episode of DVT throughout their life.<\/li>
Homozygous patients typically die in-utero.<\/li>
Antithrombin inhibits thrombin and factors Xa, IXa, and XIa.<\/li>
Leads to physiological heparin resistance.<\/li><\/ul>\n\n\n<\/span>\n
Protein C deficiency<\/h4>\n<\/span>\n\n\n
Protein C inhibits degrades Va and VIIIa.<\/li>
Heterozygous patients are expected to have an episode of DVT throughout their life.<\/li>
Homozygous patients can experience neonatal purpura fulminans (severe DIC) on their first day of life. <\/li>
It can be acquired due to liver disease, DIC, or warfarin therapy.<\/li><\/ul>\n\n\n<\/span>\n
Protein S deficiency<\/h4>\n<\/span>\n\n\n
Protein S binds and assists activated protein C.<\/li>
Its deficiency has similar characteristics as protein C deficiency.<\/li><\/ul>\n\n\n<\/span>\n
Prothrombin allele G20210A<\/h4>\n<\/span>\n\n\n
Factor II mutation.<\/li>
Leads to increased plasma prothrombin levels.<\/li><\/ul>\n\n\n<\/span>\n
Hyperhomocysteinaemia<\/h4>\n<\/span>\n\n\n
Can be hereditary or acquired<\/li>
Elevated homocysteine levels increase the risk of thrombotic events.<\/li>
A collection of congenital disorders in which components of the coagulation cascade are defective or absent, leading to an increased tendency to clot. They are more common than bleeding disorders. Asymptomatic cases are common. Most are AD. Prophylactic treatment is not typically given, and DVT\/PE is treated with UFH\/LMWH. Types Factor V Leiden gene mutation […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":5575,"menu_order":6,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-5617","page","type-page","status-publish","hentry"],"yoast_head":"\n