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Protein S deficiency disease

MedGen UID:
69229
•Concept ID:
C0242666
•
Disease or Syndrome
Synonym: Protein S deficiency
SNOMED CT: Protein S deficiency (1563006); Protein S deficiency disease (1563006)
 
Monarch Initiative: MONDO:0002304

Definition

A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Protein S deficiency disease

Professional guidelines

PubMed

American Society of Hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testing.
Middeldorp S, Nieuwlaat R, Baumann Kreuziger L, Coppens M, Houghton D, James AH, Lang E, Moll S, Myers T, Bhatt M, Chai-Adisaksopha C, Colunga-Lozano LE, Karam SG, Zhang Y, Wiercioch W, Schünemann HJ, Iorio A
Blood Adv 2023 Nov 28;7(22):7101-7138. doi: 10.1182/bloodadvances.2023010177. PMID: 37195076Free PMC Article
Coagulation disorders and their cutaneous presentations: Diagnostic work-up and treatment.
Dabiri G, Damstetter E, Chang Y, Baiyee Ebot E, Powers JG, Phillips T
J Am Acad Dermatol 2016 May;74(5):795-804; quiz 805-6. doi: 10.1016/j.jaad.2015.08.071. PMID: 27085226
Purpura fulminans: recognition, diagnosis and management.
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Recent clinical studies

Therapy

Recurrent MiscarriageGreen-top Guideline No. 17.
Regan L, Rai R, Saravelos S, Li TC; Royal College of Obstetricians and Gynaecologists
BJOG 2023 Nov;130(12):e9-e39. Epub 2023 Jun 19 doi: 10.1111/1471-0528.17515. PMID: 37334488
American Society of Hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testing.
Middeldorp S, Nieuwlaat R, Baumann Kreuziger L, Coppens M, Houghton D, James AH, Lang E, Moll S, Myers T, Bhatt M, Chai-Adisaksopha C, Colunga-Lozano LE, Karam SG, Zhang Y, Wiercioch W, Schünemann HJ, Iorio A
Blood Adv 2023 Nov 28;7(22):7101-7138. doi: 10.1182/bloodadvances.2023010177. PMID: 37195076Free PMC Article
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Protein C and protein S deficiency - practical diagnostic issues.
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Purpura fulminans: recognition, diagnosis and management.
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Prognosis

The dos, don'ts, and nuances of thrombophilia testing.
Chiasakul T, Bauer KA
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):593-599. doi: 10.1182/hematology.2023000491. PMID: 38066917Free PMC Article
Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.
Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Protein C and protein S deficiency - practical diagnostic issues.
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Purpura fulminans: recognition, diagnosis and management.
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Clinical prediction guides

The dos, don'ts, and nuances of thrombophilia testing.
Chiasakul T, Bauer KA
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):593-599. doi: 10.1182/hematology.2023000491. PMID: 38066917Free PMC Article
Causes of ischemic stroke in young adults versus non-young adults: A multicenter hospital-based observational study.
Ohya Y, Matsuo R, Sato N, Irie F, Nakamura K, Wakisaka Y, Ago T, Kamouchi M, Kitazono T; Investigators for Fukuoka Stroke Registry
PLoS One 2022;17(7):e0268481. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0268481. PMID: 35830430Free PMC Article
Genetic risk factors for venous thromboembolism.
Zöller B, Svensson PJ, Dahlbäck B, Lind-Hallden C, Hallden C, Elf J
Expert Rev Hematol 2020 Sep;13(9):971-981. Epub 2020 Aug 23 doi: 10.1080/17474086.2020.1804354. PMID: 32731838
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Protein C and protein S deficiency - practical diagnostic issues.
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Recent systematic reviews

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.
Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Cerebral venous thrombosis at high altitude: A systematic review.
Zavanone C, Panebianco M, Yger M, Borden A, Restivo D, Angelini C, Pavone A, Grimod G, Rosso C, Dupont S
Rev Neurol (Paris) 2017 Apr;173(4):189-193. Epub 2016 Dec 27 doi: 10.1016/j.neurol.2016.11.004. PMID: 28038774
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
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Neonatal thrombosis and its treatment.
Greenway A, Massicotte MP, Monagle P
Blood Rev 2004 Jun;18(2):75-84. doi: 10.1016/S0268-960X(03)00042-0. PMID: 15010146

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