Thrombophilia due to Activated Protein C Resistance

A hereditary autosomal dominant susceptibility for THROMBOSIS that is caused by mutations in the F5 gene, resulting in factor V resistant to cleavage and inactivation by activated PROTEIN C. OMIM: 188055

Also Known As:

Apc Resistance, Leiden Type; Factor V Leiden Thrombophilia; Hereditary Resistance To Activated Protein C; Protein C Cofactor Deficiency; Thrombophilia V; Thrombophilia due to Deficiency of Activated Protein C Cofactor; Thrombophilia due to Factor V Leiden

Networked: 16 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombosis (Thrombus)
2.	Thrombophilia
3.	Venous Thromboembolism
4.	Venous Thrombosis (Deep-Vein Thrombosis)
5.	Hyperhomocysteinemia

Experts

1.	Aman, Martin: 1 article (05/2022)
2.	Bigdeli, Amir K: 1 article (05/2022)
3.	Falkner, Florian: 1 article (05/2022)
4.	Gazyakan, Emre: 1 article (05/2022)
5.	Harhaus, Leila: 1 article (05/2022)
6.	Kneser, Ulrich: 1 article (05/2022)
7.	Radu, Christian A: 1 article (05/2022)
8.	Risse, Eva-Maria: 1 article (05/2022)
9.	Thomas, Benjamin: 1 article (05/2022)
10.	Wittenberg, Gerhard: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thrombophilia due to Activated Protein C Resistance:

1.	Prothrombin (Factor II)IBA 01/01/2019 - "Factor V Leiden thrombophilia is the most common inherited form of thrombophilia and prothrombin-related thrombophilia is the second most common genetic form of thrombophilia, occurring in about 1.7-3% of the European and US general populations (3). " 07/01/2006 - "Factor V Leiden thrombophilia is the most common inherited form of thrombophilia and it is occasionally associated with the anomalous prothrombin G20210A mutations. " 10/14/2019 - "Ten patients had heterozygous Factor V Leiden thrombophilia; two had homozygous Factor 5 Leiden thrombophilia; and three had the prothrombin 20210A heterozygous mutation. " 08/03/2004 - "We studied 115 primary upper-extremity DVT patients and 797 healthy controls for the presence of thrombophilia due to factor V Leiden, prothrombin G20210A, antithrombin, protein C, protein S deficiency, and hyperhomocysteinemia. " 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
2.	Factor V (Coagulation Factor V)IBA 05/01/2019 - "Factor V Leiden thrombophilia, a relatively common inherited type of hypercoagulability resulting from a mutation in the gene for factor V, has received minimal attention in the dental literature. " 09/01/1995 - "Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C." 10/14/2019 - "Ten patients had heterozygous Factor V Leiden thrombophilia; two had homozygous Factor 5 Leiden thrombophilia; and three had the prothrombin 20210A heterozygous mutation. " 08/01/1998 - "Hereditary resistance to activated protein C is a condition that increases the risk of thrombosis as a result of mutation in factor V gene (factor V Leiden). " 09/01/1995 - "More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of venous thrombosis. "
3.	Protein CIBA 06/01/1999 - "Furthermore, the normalized activated protein C sensitivity ratio of 80% of the users of third-generation preparations fell within the 5th to 95th percentile of the normalized activated protein C sensitivity ratio of female carriers of factor V Leiden, a mutation that is associated with hereditary resistance to activated protein C and with an increased risk of venous thromboembolism. " 08/03/2004 - "We studied 115 primary upper-extremity DVT patients and 797 healthy controls for the presence of thrombophilia due to factor V Leiden, prothrombin G20210A, antithrombin, protein C, protein S deficiency, and hyperhomocysteinemia. " 09/01/1995 - "More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of venous thrombosis. "
4.	factor V LeidenIBA 04/01/2012 - "Hereditary resistance to activated Protein C (Factor V Leiden) is the commonest genetic defect known to confer a predisposition to thrombosis. " 06/01/1999 - "Furthermore, the normalized activated protein C sensitivity ratio of 80% of the users of third-generation preparations fell within the 5th to 95th percentile of the normalized activated protein C sensitivity ratio of female carriers of factor V Leiden, a mutation that is associated with hereditary resistance to activated protein C and with an increased risk of venous thromboembolism. " 08/01/1998 - "Hereditary resistance to activated protein C is a condition that increases the risk of thrombosis as a result of mutation in factor V gene (factor V Leiden). "
5.	Antiphospholipid AntibodiesIBA 09/01/1997 - "Hereditary resistance to activated protein C: an uncommon risk factor for thromboembolic disease in lupus patients with antiphospholipid antibodies." 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
6.	HomocysteineIBA 01/01/2022 - "The primary endpoint was the impact of activated protein C resistance; secondary endpoints were the influence of Factor V Leiden thrombophilia, homocysteine, ß2-glycoprotein antibodies, and other laboratory values on the assisted primary patency. " 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
7.	Factor VaIBA 09/01/1995 - "More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of venous thrombosis. "
8.	Testosterone (Sustanon)FDA Link 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
9.	Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
10.	Contraceptive Agents (Contraceptives)IBA 04/01/2011 - "Growing evidence in the literature indicates an interaction between factor V Leiden thrombophilia and acquired prothrombotic conditions such as contraceptive use or hormone replacement therapy, resulting in an increased risk of venous thromboembolism (VTE). "

Therapies and Procedures

1.	Therapeutics 09/01/2022 - "Our case highlights the need for further research into the prevalence of genetic risk factors in coronary artery thrombosis and the need to investigate the efficacy of different anticoagulation therapies in patients with factor V Leiden thrombophilia." 05/01/2015 - "We screened previously undiagnosed thrombophilia (V Leiden-prothrombin mutations, Factors VIII and XI, homocysteine, and antiphospholipid antibody [APL] syndrome) in 15 men and 2 women with venous thromboembolism (VTE) or osteonecrosis 7 months (median) after starting testosterone therapy (TT), gel (30-50 mg/d), intramuscular (100-400 mg/wk), or human chorionic gonadotropin (HCG) (6000 IU/wk). "
2.	Free Tissue Flaps 05/14/2022 - "The prognostic role of extended preoperative hypercoagulability work-up in high-risk microsurgical free flaps: a single-center retrospective case series of patients with heterozygotic factor V Leiden thrombophilia."
3.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 04/01/2011 - "Growing evidence in the literature indicates an interaction between factor V Leiden thrombophilia and acquired prothrombotic conditions such as contraceptive use or hormone replacement therapy, resulting in an increased risk of venous thromboembolism (VTE). "