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Hereditary thrombophilia due to congenital protein S deficiency

MedGen UID:
748876
•Concept ID:
C2584611
•
Disease or Syndrome
Synonyms: Autosomal recessive thrombophilia due to congenital protein S deficiency; autosomal recessive thrombophilia due to congenital protein S deficiency; Hereditary protein S deficiency; hereditary thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency
SNOMED CT: Hereditary protein S deficiency (439702007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019144
Orphanet: ORPHA743

Definition

An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hereditary thrombophilia due to congenital protein S deficiency

Professional guidelines

PubMed

Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study.
Sträter R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, Kurnik K, Schobess R, Nowak-Göttl U
Lancet 2002 Nov 16;360(9345):1540-5. doi: 10.1016/S0140-6736(02)11520-0. PMID: 12443591

Recent clinical studies

Etiology

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
Recommendations for clinical laboratory testing for protein S deficiency: Communication from the SSC committee plasma coagulation inhibitors of the ISTH.
Marlar RA, Gausman JN, Tsuda H, Rollins-Raval MA, Brinkman HJM
J Thromb Haemost 2021 Jan;19(1):68-74. doi: 10.1111/jth.15109. PMID: 33405382
Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism.
Nowak-Göttl U, Auberger K, Göbel U, Kreuz W, Schneppenheim R, Vielhaber H, Zenz W, Zieger B
Eur J Pediatr 1996 Nov;155(11):921-7. doi: 10.1007/BF02282879. PMID: 8911889

Diagnosis

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
Comparative evaluation of reagents for measuring protein S activity: possibility of harmonization.
Ieko M, Hotta T, Watanabe K, Adachi T, Takeuchi S, Naito S, Yoshida M, Ohmura K, Takahashi N, Morishita E, Tsuda H, Kang D
Int J Hematol 2021 Apr;113(4):530-536. Epub 2021 Jan 8 doi: 10.1007/s12185-020-03049-8. PMID: 33417140
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Laboratory diagnosis of hereditary thrombophilia.
Michiels JJ, Hamulyák K
Semin Thromb Hemost 1998;24(4):309-20. doi: 10.1055/s-2007-996019. PMID: 9763348
Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism.
Nowak-Göttl U, Auberger K, Göbel U, Kreuz W, Schneppenheim R, Vielhaber H, Zenz W, Zieger B
Eur J Pediatr 1996 Nov;155(11):921-7. doi: 10.1007/BF02282879. PMID: 8911889

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
Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Protein C deficiency as the major cause of thrombophilias in childhood.
Ohga S, Ishiguro A, Takahashi Y, Shima M, Taki M, Kaneko M, Fukushima K, Kang D, Hara T; Japan Childhood Thrombophilia Study Group
Pediatr Int 2013 Jun;55(3):267-71. doi: 10.1111/ped.12102. PMID: 23521084
Recurrent warfarin-induced skin necrosis in kindreds with protein S deficiency.
Sallah S, Abdallah JM, Gagnon GA
Haemostasis 1998 Jan-Feb;28(1):25-30. doi: 10.1159/000022380. PMID: 9885367
Laboratory diagnosis of hereditary thrombophilia.
Michiels JJ, Hamulyák K
Semin Thromb Hemost 1998;24(4):309-20. doi: 10.1055/s-2007-996019. PMID: 9763348

Prognosis

Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study.
Sträter R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, Kurnik K, Schobess R, Nowak-Göttl U
Lancet 2002 Nov 16;360(9345):1540-5. doi: 10.1016/S0140-6736(02)11520-0. PMID: 12443591
Recurrent warfarin-induced skin necrosis in kindreds with protein S deficiency.
Sallah S, Abdallah JM, Gagnon GA
Haemostasis 1998 Jan-Feb;28(1):25-30. doi: 10.1159/000022380. PMID: 9885367

Clinical prediction guides

Comparative evaluation of reagents for measuring protein S activity: possibility of harmonization.
Ieko M, Hotta T, Watanabe K, Adachi T, Takeuchi S, Naito S, Yoshida M, Ohmura K, Takahashi N, Morishita E, Tsuda H, Kang D
Int J Hematol 2021 Apr;113(4):530-536. Epub 2021 Jan 8 doi: 10.1007/s12185-020-03049-8. PMID: 33417140
Rapid recovery of acquired purpura fulminans in a patient with familial C4bBP deficiency.
Lemesle FG, Gris JC, Schwed JF, Arich C
Intensive Care Med 1993;19(2):115-6. doi: 10.1007/BF01708373. PMID: 8486865

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