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Congenital Platelets Abnormality

MedGen UID:
406468
Concept ID:
C1880168
Disease or Syndrome

Definition

A group of rare inherited platelet disorders that involve abnormalities of platelet function or platelet production and that usually cause moderate to severe bleeding problems. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Platelets Abnormality

Professional guidelines

PubMed

Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Vanderwerf JD, Kumar MA
Handb Clin Neurol 2017;141:743-764. doi: 10.1016/B978-0-444-63599-0.00040-5. PMID: 28190445
Schutgens RB, Wanders RJ, Heymans HS, Schram AW, Tager JM, Schrakamp G, van den Bosch H
J Inherit Metab Dis 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845. PMID: 3119940

Recent clinical studies

Etiology

Mammadova-Bach E, Jaeken J, Gudermann T, Braun A
Int J Mol Sci 2020 Aug 6;21(16) doi: 10.3390/ijms21165630. PMID: 32781578Free PMC Article
Mas JL, Derumeaux G, Guillon B, Massardier E, Hosseini H, Mechtouff L, Arquizan C, Béjot Y, Vuillier F, Detante O, Guidoux C, Canaple S, Vaduva C, Dequatre-Ponchelle N, Sibon I, Garnier P, Ferrier A, Timsit S, Robinet-Borgomano E, Sablot D, Lacour JC, Zuber M, Favrole P, Pinel JF, Apoil M, Reiner P, Lefebvre C, Guérin P, Piot C, Rossi R, Dubois-Randé JL, Eicher JC, Meneveau N, Lusson JR, Bertrand B, Schleich JM, Godart F, Thambo JB, Leborgne L, Michel P, Pierard L, Turc G, Barthelet M, Charles-Nelson A, Weimar C, Moulin T, Juliard JM, Chatellier G; CLOSE Investigators
N Engl J Med 2017 Sep 14;377(11):1011-1021. doi: 10.1056/NEJMoa1705915. PMID: 28902593
Sarangi SN, Acharya SS
Pediatrics 2017 Feb;139(2) Epub 2017 Jan 6 doi: 10.1542/peds.2015-4360. PMID: 28062601
Scully M, Cataland S, Coppo P, de la Rubia J, Friedman KD, Kremer Hovinga J, Lämmle B, Matsumoto M, Pavenski K, Sadler E, Sarode R, Wu H; International Working Group for Thrombotic Thrombocytopenic Purpura
J Thromb Haemost 2017 Feb;15(2):312-322. Epub 2017 Jan 30 doi: 10.1111/jth.13571. PMID: 27868334
Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

Diagnosis

Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A
Turk J Gastroenterol 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. PMID: 30457558Free PMC Article
Hayward CPM
Int J Lab Hematol 2018 May;40 Suppl 1:6-14. doi: 10.1111/ijlh.12822. PMID: 29741250
Scully M, Cataland S, Coppo P, de la Rubia J, Friedman KD, Kremer Hovinga J, Lämmle B, Matsumoto M, Pavenski K, Sadler E, Sarode R, Wu H; International Working Group for Thrombotic Thrombocytopenic Purpura
J Thromb Haemost 2017 Feb;15(2):312-322. Epub 2017 Jan 30 doi: 10.1111/jth.13571. PMID: 27868334
Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122Free PMC Article
Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

Therapy

Kim ESH
N Engl J Med 2020 Dec 10;383(24):2358-2370. doi: 10.1056/NEJMra2001524. PMID: 33296561
Mas JL, Derumeaux G, Guillon B, Massardier E, Hosseini H, Mechtouff L, Arquizan C, Béjot Y, Vuillier F, Detante O, Guidoux C, Canaple S, Vaduva C, Dequatre-Ponchelle N, Sibon I, Garnier P, Ferrier A, Timsit S, Robinet-Borgomano E, Sablot D, Lacour JC, Zuber M, Favrole P, Pinel JF, Apoil M, Reiner P, Lefebvre C, Guérin P, Piot C, Rossi R, Dubois-Randé JL, Eicher JC, Meneveau N, Lusson JR, Bertrand B, Schleich JM, Godart F, Thambo JB, Leborgne L, Michel P, Pierard L, Turc G, Barthelet M, Charles-Nelson A, Weimar C, Moulin T, Juliard JM, Chatellier G; CLOSE Investigators
N Engl J Med 2017 Sep 14;377(11):1011-1021. doi: 10.1056/NEJMoa1705915. PMID: 28902593
Sarangi SN, Acharya SS
Pediatrics 2017 Feb;139(2) Epub 2017 Jan 6 doi: 10.1542/peds.2015-4360. PMID: 28062601
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663
Graham S, Fraser IS
Contraception 1982 Oct;26(4):373-88. doi: 10.1016/0010-7824(82)90104-4. PMID: 6759029

Prognosis

Mas JL, Derumeaux G, Guillon B, Massardier E, Hosseini H, Mechtouff L, Arquizan C, Béjot Y, Vuillier F, Detante O, Guidoux C, Canaple S, Vaduva C, Dequatre-Ponchelle N, Sibon I, Garnier P, Ferrier A, Timsit S, Robinet-Borgomano E, Sablot D, Lacour JC, Zuber M, Favrole P, Pinel JF, Apoil M, Reiner P, Lefebvre C, Guérin P, Piot C, Rossi R, Dubois-Randé JL, Eicher JC, Meneveau N, Lusson JR, Bertrand B, Schleich JM, Godart F, Thambo JB, Leborgne L, Michel P, Pierard L, Turc G, Barthelet M, Charles-Nelson A, Weimar C, Moulin T, Juliard JM, Chatellier G; CLOSE Investigators
N Engl J Med 2017 Sep 14;377(11):1011-1021. doi: 10.1056/NEJMoa1705915. PMID: 28902593
Vanderwerf JD, Kumar MA
Handb Clin Neurol 2017;141:743-764. doi: 10.1016/B978-0-444-63599-0.00040-5. PMID: 28190445
Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122Free PMC Article
Girolami A, Scarparo P, Candeo N, Lombardi AM
Expert Rev Hematol 2010 Dec;3(6):685-95. doi: 10.1586/ehm.10.69. PMID: 21091145
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Clinical prediction guides

Guan Y, Enejder A, Wang M, Fang Z, Cui L, Chen SY, Wang J, Tan Y, Wu M, Chen X, Johansson PK, Osman I, Kunimoto K, Russo P, Heilshorn SC, Peltz G
Nat Commun 2021 Oct 22;12(1):6138. doi: 10.1038/s41467-021-26410-9. PMID: 34686668Free PMC Article
Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122Free PMC Article
George JN, Sadler JE, Lämmle B
Hematology Am Soc Hematol Educ Program 2002:315-34. doi: 10.1182/asheducation-2002.1.315. PMID: 12446430
Ahya R, Turner ML, Urbaniak SJ; SNAIT Study Team
Transfus Apher Sci 2001 Oct;25(2):139-45. doi: 10.1016/s1473-0502(01)00102-1. PMID: 11761276
Rodeghiero F, Castaman G
Ric Clin Lab 1990 Apr-Jun;20(2):143-53. doi: 10.1007/BF02877561. PMID: 2196663

Recent systematic reviews

Li Y, Ding B, Wang X, Ding Q
Thromb Res 2022 Sep;217:36-47. Epub 2022 Jul 14 doi: 10.1016/j.thromres.2022.07.005. PMID: 35853369
Arques S
Ann Cardiol Angeiol (Paris) 2020 Oct;69(4):192-200. Epub 2020 Aug 11 doi: 10.1016/j.ancard.2020.07.012. PMID: 32797938
Accardo G, Amoresano Paglionico V, Di Fraia R, Cittadini A, Salzano A, Esposito D, De Bellis A, Pasquali D
Expert Rev Endocrinol Metab 2019 Mar;14(2):145-152. Epub 2019 Feb 22 doi: 10.1080/17446651.2019.1584036. PMID: 30793993
Khairy P, O'Donnell CP, Landzberg MJ
Ann Intern Med 2003 Nov 4;139(9):753-60. doi: 10.7326/0003-4819-139-9-200311040-00010. PMID: 14597460

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