I. Epidemiology

  1. Responsible for 20-50% of Hypercoagulable patients
  2. Incidence of Autosomal dominant genetic defect
    1. Europeans: 15%
    2. North America: 3-5%

II. Risks

  1. Heterozygote: 5-10 times the risk of thrombosis
  2. Homozygote: 50-100 times the risk of thrombosis

III. Pathophysiology

  1. Factor V is a Cofactor for Factor X
  2. Defect prevents Factor V degradation by Protein C

IV. Labs

  1. Activated Protein C (APC) resistance
    1. Can not be anticoagulated when this lab run
  2. PCR for Factor V Leiden
    1. Responsible for 95% of APC Resistance
    2. Does NOT require that patient be off Anticoagulation

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Ontology: Activated Protein C Resistance (C0600433)

Definition (MSH) A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
Concepts Disease or Syndrome (T047)
MSH D020016
ICD10 D68.51
SnomedCT 421527008
English Activated protein C resistance, Resistance to activated protein C due to Factor V Leiden (disorder), Resistance to activated protein C due to Factor V Leiden, Resistance to activated protein C due to Factor V R506Q, Activated Protein C Resistance, APC Resistance, Resistance, APC, activated protein C resistance, activated protein C resistance (diagnosis), Resistance to activated protein C, Activated Protein C Resistance [Disease/Finding], activated protein c resistance, apc resistance
Japanese 活性化プロテインC抵抗性, カッセイカプロテインCテイコウセイ, APCレジスタンス, 活性化プロテインCレジスタンス, 活性化プロテインC抵抗性
Swedish Aktiverat protein C-resistens
Czech FVL - faktor V Leiden, rezistence k aktivovanému proteinu C, APC rezistence, faktor V - leidenská mutace, Rezistence na aktivovaný protein C
Finnish APC-resistenssi
Russian BELKA C AKTIVIROVANNOGO USTOICHIVOST', PROTEINA C AKTIVIROVANNOGO REZISTENTNOST', БЕЛКА C АКТИВИРОВАННОГО УСТОЙЧИВОСТЬ, ПРОТЕИНА C АКТИВИРОВАННОГО РЕЗИСТЕНТНОСТЬ
Italian APC resistenza, Resistenza alla proteina C attivata
Spanish resistencia a proteína C activada debida a Factor V de Leiden (trastorno), resistencia a la proteina C activada debido al Factor V de Leiden (trastorno), resistencia a la proteina C activada debido al Factor V de Leiden, resistencia a proteína C activada debida a Factor V de Leiden, Resistencia a la Proteina C Activada, Resistencia a la Proteína C Activada, Resistencia a la PCA, Resistencia a la APC, RPCA, Resistencia a la proteína C activada
Portuguese RPCA, Resistência a proteína C activada, Resistência à APC, Resistência à Proteína C Ativada
Polish Oporność APC, Oporność na aktywne białko C
Hungarian aktivált protein-C resistentia
Dutch geactiveerde eiwit C weerstand, APC-resistentie, Geactiveerde-proteïne-C-resistentie, Resistentie, geactiveerde-proteïne-C-
German Resistenz gegenueber aktiviertem Protein C, APC-Resistenz, Resistenz gegen aktiviertes Protein C
French Résistance à la protéine C activée, Résistance APC, RPCa (Résistance à la Protéine C Activée)