II. Epidemiology
- Most common inherited Thrombophilia in the United States
- HeterozygousPrevalence: 3 to 7% (U.S.)
- Responsible for 20-50% of Hypercoagulable patients
-
Incidence of Autosomal Dominant genetic defect
- Europeans: 15%
- North America: 3-5%
- Ethnicity
- Most common in white patients
- African Americans represent <1% of cases
III. Pathophysiology
IV. Labs
- Activated Protein C (APC) resistance
- Can not be anticoagulated when this lab is run
- Tests for Anticoagulant response to activated Protein C (APC)
- PCR for Factor V Leiden
- Responsible for 95% of APC Resistance
- Does NOT require that patient be off Anticoagulation
- Patients may be found to be either Heterozygous or Homozygous for Factor V
V. Complications
-
General
- Heterozygote: 5-10 times the risk of thrombosis
- Homozygote: 50-100 times the risk of thrombosis
- Factor V Leiden is found in 21% of DVT patients (contrast with 5% of healthy patients)
- Also found to be associated with more extensive DVTs of larger veins
- Arsov (2006) Croat Med 47(3): 433-9 [PubMed]
- Deep Vein Thrombosis
- Pulmonary Embolism
- Myocardial Infarction
VI. Management
VII. References
- Jean-Louis and Sethuraman (2023) Crit Dec Emerg Med 37(7): 4-11
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Definition (NCI) | An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. |
Concepts | Disease or Syndrome (T047) |
ICD10 | D68.51 |
SnomedCT | 307091009 |
Italian | Mutazione del Fattore V Leiden |
Japanese | 第V因子ライデン変異, ダイ5インシライデンヘンイ |
English | factor V Leiden mutation, factor V Leiden mutation (diagnosis), factor leiden mutation v, factor v leiden mutation, leiden mutation factor v, Factor V Leiden Mutation, Factor V Leiden mutation, Factor V Leiden, Factor V Leiden mutation (disorder) |
Czech | Leidenská mutace faktoru V |
Hungarian | Faktor V Leiden mutatio |
Spanish | mutación del factor V Leiden (trastorno), mutación del factor V Leiden, Factor V de Leiden |
Portuguese | Mutação do factor V de Leiden |
Dutch | factor V Leiden mutatie |
French | Mutation du facteur V de Leiden |
German | Leiden-Mutation |
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 |
LNC | LP18494-2, MTHU004273 |
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 Proteína C Activada, Resistencia a la APC, Resistencia a la PCA, RPCA, Resistencia a la proteína C activada |
Polish | Oporność APC, Oporność na aktywne białko C |
Hungarian | aktivált protein-C resistentia |
French | RPCa (Résistance à la PCa), RPCa (Résistance à la Protéine C activée), Résistance à la protéine C activée |
Norwegian | Faktor V-Leiden-mutasjon, Aktivert protein C-resistens, Resistens mot aktivert protein C |
Portuguese | RPCA, Resistência a proteína C activada, Resistência à APC, Resistência à Proteína C Ativada |
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 |
Ontology: Factor V Leiden heterozygote (C1168517)
Concepts | Disease or Syndrome (T047) |
Dutch | factor V Leiden heterozygoot |
French | Facteur V de Leiden hétérozygote |
German | Faktor-V-Leiden-Mutation heterozygot |
Italian | Eterozigote per Fattore V Leiden |
Portuguese | Factor V Leiden heterozigótico |
Spanish | Factor V de Leiden heterocigoto |
Japanese | 第V因子ライデン異型接合体, ダイ5インシライデンイケイセツゴウタイ |
Czech | Heterozygotní forma Leidenské mutace faktoru V |
Hungarian | Faktor V LEIDEN ((heterozigóta)) |
English | Factor V Leiden heterozygote |
Ontology: Factor V Leiden homozygote (C1168518)
Concepts | Disease or Syndrome (T047) |
Dutch | factor V Leiden homozygoot |
French | Facteur V de Leiden homozygote |
German | Faktor-V-Leiden-Mutation homozygot |
Italian | Omozigote per Fattore V Leiden |
Portuguese | Factor V Leiden homozigótoco |
Spanish | Factor V de Leiden homocigoto |
Japanese | 第V因子ライデン同型接合体, ダイ5インシライデンドウケイセツゴウタイ |
Czech | Homozygotní forma Leidenské mutace faktoru V |
Hungarian | Faktor V LEIDEN ((homozygota)) |
English | Factor V Leiden homozygote |