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Heterozygous protein C deficiency

MedGen UID:
750213
•Concept ID:
C2585960
•
Disease or Syndrome
SNOMED CT: Heterozygous protein C deficiency (441101007)

Professional guidelines

PubMed

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025
Clinical management of protein C deficiency.
Pescatore SL
Expert Opin Pharmacother 2001 Mar;2(3):431-9. doi: 10.1517/14656566.2.3.431. PMID: 11336597
Hereditary protein C deficiency: a review of the genetics, clinical presentation, diagnosis and treatment.
Marlar RA, Mastovich S
Blood Coagul Fibrinolysis 1990 Aug;1(3):319-30. PMID: 2103316

Recent clinical studies

Etiology

Marginal parental donors for pediatric living donor liver transplantation.
Kasahara M, Sakamoto S, Fukuda A, Uchida H, Yi NJ, Schlegel A, Muiesan P, Qiang X, Gao W, Zhu ZJ, Rodriguez-Davalos M, Rela M
Curr Opin Organ Transplant 2022 Aug 1;27(4):346-350. doi: 10.1097/MOT.0000000000000990. PMID: 36354261
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z, Yang Z, Chen M, Li Y
Medicine (Baltimore) 2022 Oct 21;101(42):e31221. doi: 10.1097/MD.0000000000031221. PMID: 36281079Free PMC Article
Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
Liu H, Wang HF, Tang L, Yang Y, Wang QY, Zeng W, Wu YY, Cheng ZP, Hu B, Guo T, Hu Y
Gene 2015 May 25;563(1):35-40. Epub 2015 Mar 4 doi: 10.1016/j.gene.2015.03.002. PMID: 25748729
Protein C deficiency.
Goldenberg NA, Manco-Johnson MJ
Haemophilia 2008 Nov;14(6):1214-21. doi: 10.1111/j.1365-2516.2008.01838.x. PMID: 19141162
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997

Diagnosis

Congenital heterozygous protein C deficiency with portal vein thrombosis.
Hirose F, Sekinaka Y, Matsumoto S, Imai K, Ohga S, Nonoyama S, Kawaguchi H
Pediatr Int 2023 Jan-Dec;65(1):e15627. doi: 10.1111/ped.15627. PMID: 37705371
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z, Yang Z, Chen M, Li Y
Medicine (Baltimore) 2022 Oct 21;101(42):e31221. doi: 10.1097/MD.0000000000031221. PMID: 36281079Free PMC Article
Ischemic stroke due to protein C deficiency.
Kohler J, Kasper J, Witt I, von Reutern GM
Stroke 1990 Jul;21(7):1077-80. doi: 10.1161/01.str.21.7.1077. PMID: 2195715
Protein C deficiency.
Rappaport ES, Speights VO, Helbert B, Trowbridge A, Koops B, Montgomery RR, Marlar RA
South Med J 1987 Feb;80(2):240-2. doi: 10.1097/00007611-198702000-00025. PMID: 3810223
Clinical relevance of protein C.
Pabinger I
Blut 1986 Aug;53(2):63-75. doi: 10.1007/BF00321089. PMID: 3524711

Therapy

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z, Yang Z, Chen M, Li Y
Medicine (Baltimore) 2022 Oct 21;101(42):e31221. doi: 10.1097/MD.0000000000031221. PMID: 36281079Free PMC Article
Case report: perioperative use of protein c concentrate for protein C deficiency in THA.
Thakkar SC, Streiff MB, Bruley DF, Mears SC
Clin Orthop Relat Res 2010 Jul;468(7):1986-90. Epub 2009 Dec 10 doi: 10.1007/s11999-009-1189-8. PMID: 20012238Free PMC Article
Protein C deficiency.
Goldenberg NA, Manco-Johnson MJ
Haemophilia 2008 Nov;14(6):1214-21. doi: 10.1111/j.1365-2516.2008.01838.x. PMID: 19141162
Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997
Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation.
Cransac M, Carles J, Bernard PH, Malavialle P, Freyburger G, Winnock S, Saric J
Transpl Int 1995;8(4):307-11. doi: 10.1007/BF00346885. PMID: 7546154

Prognosis

Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy.
Ishimura M, Saito M, Ohga S, Hoshina T, Baba H, Urata M, Kira R, Takada H, Kusuhara K, Kang D, Hara T
Eur J Pediatr 2009 Jun;168(6):673-7. Epub 2008 Aug 27 doi: 10.1007/s00431-008-0816-9. PMID: 18751723
Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.
Ireland H, Thompson E, Lane DA
Thromb Haemost 1996 Dec;76(6):867-73. PMID: 8972002
Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma.
Simioni P, Kalafatis M, Millar DS, Henderson SC, Luni S, Cooper DN, Girolami A
Blood 1996 Sep 15;88(6):2101-8. PMID: 8822929

Clinical prediction guides

Human protein C concentrates for replacement therapy in congenital and acquired protein C deficiency.
Knoebl PN
Drugs Today (Barc) 2008 Jun;44(6):429-41. doi: 10.1358/dot.2008.44.6.1217993. PMID: 18596997
Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.
Ireland H, Thompson E, Lane DA
Thromb Haemost 1996 Dec;76(6):867-73. PMID: 8972002
Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma.
Simioni P, Kalafatis M, Millar DS, Henderson SC, Luni S, Cooper DN, Girolami A
Blood 1996 Sep 15;88(6):2101-8. PMID: 8822929
Ischemic stroke due to protein C deficiency.
Kohler J, Kasper J, Witt I, von Reutern GM
Stroke 1990 Jul;21(7):1077-80. doi: 10.1161/01.str.21.7.1077. PMID: 2195715
Clinical relevance of protein C.
Pabinger I
Blut 1986 Aug;53(2):63-75. doi: 10.1007/BF00321089. PMID: 3524711

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