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Thrombophilia due to protein C deficiency, autosomal dominant(THPH3)

MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
Synonyms: PROC DEFICIENCY, AUTOSOMAL DOMINANT; Protein C Deficiency; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
 
PROC (2q14.3)
 
Monarch Initiative: MONDO:0008316
OMIM®: 176860

Definition

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. [from OMIM]

Additional description

From MedlinePlus Genetics
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.

Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting.

In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.  https://medlineplus.gov/genetics/condition/protein-c-deficiency

Clinical features

From HPO

Term Hierarchy

Professional guidelines

PubMed

Cafolla A, D'Andrea G, Baldacci E, Margaglione M, Mazzucconi MG, Foà R
Eur J Haematol 2012 Apr;88(4):336-9. Epub 2012 Jan 10 doi: 10.1111/j.1600-0609.2011.01742.x. PMID: 22168450

Recent clinical studies

Etiology

Maehana T, Nishikubo T, Maekawa R, Hotta T, Nishikawa K, Waki K, Makino Y, Akasaka J, Kawaguchi R, Kimura F
J Obstet Gynaecol Res 2024 Dec;50(12):2367-2371. Epub 2024 Nov 5 doi: 10.1111/jog.16138. PMID: 39501745
Bona R
Oral Maxillofac Surg Clin North Am 2016 Nov;28(4):491-495. doi: 10.1016/j.coms.2016.06.002. PMID: 27745619
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Cafolla A, D'Andrea G, Baldacci E, Margaglione M, Mazzucconi MG, Foà R
Eur J Haematol 2012 Apr;88(4):336-9. Epub 2012 Jan 10 doi: 10.1111/j.1600-0609.2011.01742.x. PMID: 22168450
Kutteh WH, Triplett DA
Semin Reprod Med 2006 Feb;24(1):54-66. doi: 10.1055/s-2006-931801. PMID: 16418978

Diagnosis

Maehana T, Nishikubo T, Maekawa R, Hotta T, Nishikawa K, Waki K, Makino Y, Akasaka J, Kawaguchi R, Kimura F
J Obstet Gynaecol Res 2024 Dec;50(12):2367-2371. Epub 2024 Nov 5 doi: 10.1111/jog.16138. PMID: 39501745
Yuan X, Li C, Chen X, Liu L, Liu G, Wen F
J Pediatr Hematol Oncol 2019 May;41(4):e210-e215. doi: 10.1097/MPH.0000000000001436. PMID: 30883460Free PMC Article
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Cafolla A, D'Andrea G, Baldacci E, Margaglione M, Mazzucconi MG, Foà R
Eur J Haematol 2012 Apr;88(4):336-9. Epub 2012 Jan 10 doi: 10.1111/j.1600-0609.2011.01742.x. PMID: 22168450
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

Therapy

Kizilocak H, Ozdemir N, Dikme G, Koc B, Celkan T
J Thromb Thrombolysis 2018 Feb;45(2):315-318. doi: 10.1007/s11239-017-1606-x. PMID: 29270858
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
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
Hashizume T, Tsushima N, Matsuo H, Ito A, Oozono K, Sakata T
Intern Med 1992 Oct;31(10):1197-200. doi: 10.2169/internalmedicine.31.1197. PMID: 1286225
Gladson CL, Groncy P, Griffin JH
Arch Dermatol 1987 Dec;123(12):1701a-1706a. PMID: 2961308

Prognosis

Zhu H, Liu H, Liu J
Medicine (Baltimore) 2021 Mar 26;100(12):e25160. doi: 10.1097/MD.0000000000025160. PMID: 33761690Free PMC Article
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Tabernero MD, Tomas JF, Alberca I, Orfao A, Lopez Borrasca A, Vicente V
Am J Hematol 1991 Apr;36(4):249-54. doi: 10.1002/ajh.2830360405. PMID: 1826407

Clinical prediction guides

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Svensson PJ, Dahlbäck B
N Engl J Med 1994 Feb 24;330(8):517-22. doi: 10.1056/NEJM199402243300801. PMID: 8302317
Bancsi LF, van der Linden IK, Bertina RM
Thromb Haemost 1992 Jun 1;67(6):649-53. PMID: 1509404
Tabernero MD, Tomas JF, Alberca I, Orfao A, Lopez Borrasca A, Vicente V
Am J Hematol 1991 Apr;36(4):249-54. doi: 10.1002/ajh.2830360405. PMID: 1826407
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

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