Research & Literature

An unusual cause of abdominal pain in an HIV-positive man.

Saing C, Yoganathan KG

BMJ case reports 2015; (2015()).

Molecular characterization of novel splice site mutation causing protein C deficiency.

Al-Hamed MH, AlBatniji F, AlDakheel GA, et al.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2016; (27(5)):585-8 doi:10.1097/MBC.0000000000000490.

Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.

Stevens SM, Woller SC, Bauer KA, et al.

Journal of thrombosis and thrombolysis 2016; (41(1)):154-64 doi:10.1007/s11239-015-1316-1.

Efficacy and safety of protein C concentrate to treat purpura fulminans and thromboembolic events in severe congenital protein C deficiency.

Manco-Johnson MJ, Bomgaars L, Palascak J, et al.

Thrombosis and haemostasis 2016; (116(1)):58-68 doi:10.1160/TH15-10-0786.

Prenatal genetic testing for familial severe congenital protein C deficiency.

Tairaku S, Taniguchi-Ikeda M, Okazaki Y, et al.

Human genome variation 2015; (2()):15017 doi:10.1038/hgv.2015.17.

Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.

van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K

Journal of thrombosis and haemostasis : JTH 2016; (14(7)):1393-403 doi:10.1111/jth.13349.

Sex hormone-binding globulin and thrombin generation in women using hormonal contraception.

Hugon-Rodin J, Alhenc-Gelas M, Hemker HC, et al.

Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2017; (22(1)):81-85 doi:10.1080/1354750X.2016.1204010.

Deep vein thrombosis and pulmonary embolism.

Di Nisio M, van Es N, Büller HR

Lancet (London, England) 2016; (388(10063)):3060-3073 doi:10.1016/S0140-6736(16)30514-1.

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.

Deng MY, Liu ZX, Huang HF, et al.

Thrombosis research 2016; (145()):93-9.

Direct Oral Anticoagulants in Patients with Thrombophilia: Challenges in Diagnostic Evaluation and Treatment.

Undas A, Góralczyk T

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2016; (25(6)):1321-1330 doi:10.17219/acem/65853.

Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients.

Undas A, Goralczyk T

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2017; (28(6)):438-442 doi:10.1097/MBC.0000000000000613.

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Inoue H, Terachi SI, Uchiumi T, et al.

Pediatric blood & cancer 2017; (64(7)) doi:10.1002/pbc.26404.

External validation of the VTE-BLEED score for predicting major bleeding in stable anticoagulated patients with venous thromboembolism.

Klok FA, Barco S, Konstantinides SV

Thrombosis and haemostasis 2017; (117(6)):1164-1170 doi:10.1160/TH16-10-0810.

Rational Design of Protein C Activators.

Barranco-Medina S, Murphy M, Pelc L, et al.

Scientific reports 2017; (7()):44596 doi:10.1038/srep44596.

Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function.

Chen C, Yang L, Villoutreix BO, et al.

Thrombosis and haemostasis 2017; (117(7)):1358-1369 doi:10.1160/TH17-01-0043.

Perioperative management of severe congenital protein C deficiency.

Watanabe K, Kato M, Ishimaru T, et al.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2017; (28(8)):646-649 doi:10.1097/MBC.0000000000000654.

Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.

Croles FN, Nasserinejad K, Duvekot JJ, et al.

BMJ (Clinical research ed.) 2017; (359()):j4452 doi:10.1136/bmj.j4452.

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans.

Al Harbi MS, El-Hattab AW

Case reports in dermatological medicine 2017; (2017()):8915608 doi:10.1155/2017/8915608.

Edoxaban improves acute venous thromboembolism while preserving protein C and protein S levels.

Yamazaki H, Yagi S, Torii Y, et al.

Journal of cardiology 2018; (71(3)):305-309 doi:10.1016/j.jjcc.2017.09.009.

A clinical audit of thrombophilia testing in pediatric patients with acute thromboembolic events: impact on management.

Gavva C, Sarode R, Zia A

Blood advances 2017; (1(25)):2386-2391 doi:10.1182/bloodadvances.2017009514.

Inherited Thrombophilia and Pregnancy Complications: Should We Test?

Arachchillage DRJ, Makris M

Seminars in thrombosis and hemostasis 2019; (45(1)):50-60 doi:10.1055/s-0038-1657782.

Management of Venous Thromboembolism in Pregnancy.

Fogerty AE

Current treatment options in cardiovascular medicine 2018; (20(8)):69 doi:10.1007/s11936-018-0658-3.

Predictive value of venous thromboembolism (VTE)-BLEED to predict major bleeding and other adverse events in a practice-based cohort of patients with VTE: results of the XALIA study.

Klok FA, Barco S, Turpie AGG, et al.

British journal of haematology 2018; (183(3)):457-465 doi:10.1111/bjh.15533.

An Audit of Thrombophilia Testing in Patients with Ischemic Stroke or Transient Ischemic Attack: The Futility of Testing.

Gavva C, Johnson M, De Simone N, Sarode R

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2018; (27(11)):3301-3305 doi:10.1016/j.jstrokecerebrovasdis.2018.07.032.

Protein C deficiency (a novel mutation: ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis.

Su K, Zhang H, Fang W, et al.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2018; (29(8)):714-719 doi:10.1097/MBC.0000000000000778.

Re-Examining Genetic Screening and Oral Contraceptives: A Patient-Centered Review.

Hiedemann B, Vernon E, Bowie BH

Journal of personalized medicine 2019; (9(1)) doi:10.3390/jpm9010004.

Protein C Deficiency.

Dinarvand P, Moser KA

Archives of pathology & laboratory medicine 2019; (143(10)):1281-1285 doi:10.5858/arpa.2017-0403-RS.

Natural anticoagulant deficiencies in Thais: A population-based study.

Rojnuckarin P, Settapiboon R, Akkawat B, et al.

Thrombosis research 2019; (178()):7-11 doi:10.1016/j.thromres.2019.03.013.

Aortic Mural Thrombus Associated with Congenital Protein C Deficiency in an Elderly Patient.

Ueda K, Morishita E, Shiraki H, et al.

Journal of atherosclerosis and thrombosis 2020; (27(1)):100-103 doi:10.5551/jat.48819.

The roles of factor Va and protein S in formation of the activated protein C/protein S/factor Va inactivation complex.

Gierula M, Salles-Crawley II, Santamaria S, et al.

Journal of thrombosis and haemostasis : JTH 2019; (17(12)):2056-2068 doi:10.1111/jth.14594.

Appropriateness of thrombophilia testing in patients in the acute care setting and an evaluation of the associated costs.

Virparia R, Brunetti L, Vigdor S, Adams CD

Journal of thrombosis and thrombolysis 2020; (49(1)):108-112 doi:10.1007/s11239-019-01930-w.

Thrombophilia evaluation in pulmonary embolism.

Stern RM, Al-Samkari H, Connors JM

Current opinion in cardiology 2019; (34(6)):603-609 doi:10.1097/HCO.0000000000000668.

How Do We Treat Pregnancy-Related Venous Thromboembolism?

Linnemann B, Seelbach-Goebel B, Heimerl S, Hart C

Hamostaseologie 2020; (40(1)):54-63 doi:10.1055/s-0039-1700501.

Protein C deficiency; PROC gene variants in a Danish population.

Winther-Larsen A, Kjaergaard AD, Larsen OH, et al.

Thrombosis research 2020; (185()):153-159 doi:10.1016/j.thromres.2019.11.027.

Successful treatment of warfarin-induced skin necrosis using oral rivaroxaban: A case report.

Kamada M, Kenzaka T

World journal of clinical cases 2019; (7(24)):4285-4291 doi:10.12998/wjcc.v7.i24.4285.

Prophylaxis and Therapy of Venous Thrombotic Events (VTE) in Pregnancy and the Postpartum Period.

Sucker C

Geburtshilfe und Frauenheilkunde 2020; (80(1)):48-59 doi:10.1055/a-1030-4546.

Recommendations for clinical laboratory testing for protein C deficiency, for the subcommittee on plasma coagulation inhibitors of the ISTH.

Cooper PC, Pavlova A, Moore GW, et al.

Journal of thrombosis and haemostasis : JTH 2020; (18(2)):271-277 doi:10.1111/jth.14667.

Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.

Seidel H, Haracska B, Naumann J, et al.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2020; (26()):1076029620912028 doi:10.1177/1076029620912028.

Contemporary best practice in the management of pulmonary embolism during pregnancy.

Wiegers HMG, Middeldorp S

Therapeutic advances in respiratory disease 2020; (14()):1753466620914222 doi:10.1177/1753466620914222.

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.

Desch KC, Ozel AB, Halvorsen M, et al.

Blood 2020; (136(5)):533-541 doi:10.1182/blood.2019004161.

Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.

Alhenc-Gelas M, Plu-Bureau G, Mauge L, et al.

Thrombosis and haemostasis 2020; (120(9)):1270-1281 doi:10.1055/s-0040-1714100.

How I treat venous thromboembolism in pregnancy.

Middeldorp S, Ganzevoort W

Blood 2020; (136(19)):2133-2142 doi:10.1182/blood.2019000963.

Esophagectomy for Esophageal Cancer in a Patient with Protein C Deficiency: A Case Report.

Ujiie N, Taniyama Y, Okamoto H, et al.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia 2020; (26(5)):286-289 doi:10.5761/atcs.cr.20-00129.

Zymogen and activated protein C have similar structural architecture.

Stojanovski BM, Pelc LA, Zuo X, Di Cera E

The Journal of biological chemistry 2020; (295(45)):15236-15244 doi:10.1074/jbc.RA120.014789.

Recurrent Cerebral Venous Thrombosis Treated with Direct Oral Anticoagulants in a Japanese Man with Hereditary Protein C Deficiency.

Saito K, Ishii K, Furuta K, et al.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021; (30(1)):105320 doi:10.1016/j.jstrokecerebrovasdis.2020.105320.

Which patients are at high risk of recurrent venous thromboembolism (deep vein thrombosis and pulmonary embolism)?

Áinle FN, Kevane B

Blood advances 2020; (4(21)):5595-5606 doi:10.1182/bloodadvances.2020002268.

Anticoagulation for Patients with Venous Thromboembolism: When is Extended Treatment Required?

Weitz JI, Prandoni P, Verhamme P

TH open : companion journal to thrombosis and haemostasis 2020; (4(4)):e446-e456 doi:10.1055/s-0040-1721735.

Pulmonary Embolism in Pregnancy.

Bates SM

Seminars in respiratory and critical care medicine 2021; (42(2)):284-298 doi:10.1055/s-0041-1722867.

A Case of Treatment With Dabigatran for Cerebral Venous Thrombosis Caused by Hereditary Protein C Deficiency.

Fukushima T, Shimomura Y, Nagaya S, et al.

Cureus 2021; (13(6)):e15473 doi:10.7759/cureus.15473.

First Trimester Anticoagulant Exposure and Adverse Pregnancy Outcomes in Women with Preconception Venous Thromboembolism: A Nationwide Cohort Study.

Søgaard M, Skjøth F, Nielsen PB, et al.

The American journal of medicine 2022; (135(4)):493-502.e5 doi:10.1016/j.amjmed.2021.10.023.

[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].

Ma XQ, Li N, Zhang RF

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2021; (44(12)):1078-1084 doi:10.3760/cma.j.cn112147-20210331-00219.

Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review.

Tang X, Zhang Z, Yang H, et al.

Thrombosis research 2022; (210()):70-77 doi:10.1016/j.thromres.2021.12.026.

Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.

Khider L, Gendron N, Mauge L

International journal of molecular sciences 2022; (23(3)) doi:10.3390/ijms23031821.

Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH.

Minford A, Brandão LR, Othman M, et al.

Journal of thrombosis and haemostasis : JTH 2022; (20(7)):1735-1743 doi:10.1111/jth.15732.

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms

Weronska A, Potaczek DP, Oto J, et al.

Genes 2022; (13(5)) doi:10.3390/genes13050733.

Anticoagulant therapy for women: implications for menstruation, pregnancy, and lactation.

DeLoughery E, Bannow BS

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):467-473 doi:10.1182/hematology.2022000401.

American Society of Hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testing.

Middeldorp S, Nieuwlaat R, Baumann Kreuziger L, et al.

Blood advances 2023; (7(22)):7101-7138 doi:10.1182/bloodadvances.2023010177.

Performance of Chromogenic Protein C (PC) Testing.

Adams R, Coleman R, Stanton T

Methods in molecular biology (Clifton, N.J.) 2023; (2663()):225-232 doi:10.1007/978-1-0716-3175-1_13.

Should direct oral anticoagulants be used to treat protein C or S deficiency?

Bennett KK, Schwier NC

JAAPA : official journal of the American Academy of Physician Assistants 2023; (36(7)):8-10 doi:10.1097/01.JAA.0000937288.04720.58.

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.

Xu F, Zhang K, Xu Q, et al.

Annals of hematology 2024; (103(2)):645-652 doi:10.1007/s00277-023-05487-w.

Outcomes of venous thromboembolism in patients with inherited thrombophilia treated with direct oral anticoagulants: insights from the RIETE registry.

Cohen O, Kenet G, Levy-Mendelovich S, et al.

Journal of thrombosis and thrombolysis 2024; (57(4)):710-720 doi:10.1007/s11239-024-02957-4.

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in thrombosis and hemostasis 2024; (50(8)):1131-1152 doi:10.1055/s-0044-1786807.

Unveiling the enigma: A challenging case of protein C deficiency concealed by fever and epistaxis.

Jauhar I, Mubashir M, Wahla MS, et al.

SAGE open medical case reports 2024; (12()):2050313X241271785 doi:10.1177/2050313X241271785.

Basics of diagnosis and treatment of venous thromboembolism.

Cox C, Roberts LN

Journal of thrombosis and haemostasis : JTH 2025; (23(4)):1185-1202 doi:10.1016/j.jtha.2025.01.009.

Liver Transplantation as a Definitive Treatment for Homozygous Protein C Deficiency.

Syed Iqbaluddin J, Asif Amin S, Fawzy Nazir Abouelkhel H, et al.

Cureus 2025; (17(2)):e78498 doi:10.7759/cureus.78498.

Cryo-EM structure of coagulation factor Va bound to activated protein C.

Mohammed BM, Basore K, Di Cera E

Blood 2025; (145(26)):3166-3177 doi:10.1182/blood.2025028476.

Cost-effective screening strategy to prevent venous thromboembolism in combined oral contraceptive users.

Douxfils J

Frontiers in endocrinology 2025; (16()):1559162 doi:10.3389/fendo.2025.1559162.

Clinical utility and costs of inpatient hereditary thrombophilia testing following acute VTE: A 5-Year retrospective study.

Munda E, Rhoades R

Journal of thrombosis and thrombolysis 2026; (59(2)):462-471 doi:10.1007/s11239-025-03183-2.

Distinct pathogenic mechanisms underlying two protein C variants (p.Arg211Gln and p.Val367Met) in a thrombophilic family: integrated functional and structural analyses.

Zhang H, Wang C, Jiang H, et al.

Human genomics 2025; (20(1)):25 doi:10.1186/s40246-025-00879-7.

Inherited thrombophilias: Genetics and testing considerations.

Tinkle MB

Journal of the American Association of Nurse Practitioners 2026; (38(1)):2-7 doi:10.1097/JXX.0000000000001216.

Pulmonary Embolism Presenting as Recurrent Syncope and Visual Disturbances in a Patient With Protein C Deficiency: An Atypical Emergency Department Presentation.

Rana T, Kaeley N, Tejpal P, et al.

Cureus 2025; (17(12)):e99743 doi:10.7759/cureus.99743.

Functional impact of PROC variants on splicing and protein C activity: evidence for clinical reclassification and RNA therapeutic approaches.

Zhang H, Huang F, Zhao Y, et al.

Journal of thrombosis and haemostasis : JTH 2026; (24(6)):2142-2157 doi:10.1016/j.jtha.2026.02.011.

Severe Multisystem Thrombotic Phenotype Associated With Protein C Deficiency in A Young Woman: A Case Report.

Alif AA, Azad MAK, Kundu T, et al.

Clinical case reports 2026; (14()):e72706 doi:10.1002/ccr3.72706.