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Inherited platelet disorder

MedGen UID:
584973
Concept ID:
C0398627
Disease or Syndrome
Synonyms: Hereditary platelet disorder; Hereditary thrombocytopathy
SNOMED CT: Hereditary thrombocytopathy (234469001); Hereditary platelet disorder (234469001); Inherited platelet disorder (234469001)

Professional guidelines

PubMed

Chen D, Pruthi RK
Int J Lab Hematol 2023 Oct;45(5):630-642. Epub 2023 Jul 18 doi: 10.1111/ijlh.14136. PMID: 37463678
Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Bellucci S, Caen J
Blood Rev 2002 Sep;16(3):193-202. doi: 10.1016/s0268-960x(02)00030-9. PMID: 12163005

Recent clinical studies

Etiology

Chen D, Pruthi RK
Int J Lab Hematol 2023 Oct;45(5):630-642. Epub 2023 Jul 18 doi: 10.1111/ijlh.14136. PMID: 37463678
Coste T, Vincent-Delorme C, Stichelbout M, Devisme L, Gelot A, Deryabin I, Pelluard F, Aloui C, Leutenegger AL, Jouannic JM, Héron D, Gould DB, Tournier-Lasserve E
Prenat Diagn 2022 May;42(5):601-610. Epub 2022 Feb 20 doi: 10.1002/pd.6113. PMID: 35150448Free PMC Article
Nurden AT
Blood Rev 2017 Sep;31(5):287-299. Epub 2017 Apr 4 doi: 10.1016/j.blre.2017.03.005. PMID: 28395882
Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM
Haemophilia 2017 May;23(3):e204-e213. Epub 2017 Feb 8 doi: 10.1111/hae.13169. PMID: 28181366
Lambert MP
Hematology Am Soc Hematol Educ Program 2011;2011:377-83. doi: 10.1182/asheducation-2011.1.377. PMID: 22160061

Diagnosis

Chen D, Pruthi RK
Int J Lab Hematol 2023 Oct;45(5):630-642. Epub 2023 Jul 18 doi: 10.1111/ijlh.14136. PMID: 37463678
Collins JH, Mayer L, Guerrero Lopez JA
J Thromb Haemost 2023 Jun;21(6):1409-1419. Epub 2023 Apr 5 doi: 10.1016/j.jtha.2023.03.032. PMID: 37028650
Tsai FD, Battinelli EM
Hematol Oncol Clin North Am 2021 Dec;35(6):1069-1084. Epub 2021 Aug 12 doi: 10.1016/j.hoc.2021.07.003. PMID: 34391603
Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Canault M, Alessi MC
Int J Mol Sci 2020 Feb 6;21(3) doi: 10.3390/ijms21031075. PMID: 32041177Free PMC Article

Therapy

Al-Huniti A, Marshall L, Rusk D, Pruthi RK, Rodriguez V, Ferdjallah A, Kuhn A
Haemophilia 2024 May;30(3):648-657. Epub 2024 Mar 20 doi: 10.1111/hae.14996. PMID: 38507239
Favier R, Roussel X, Audia S, Bordet JC, De Maistre E, Hirsch P, Neuhart A, Bedgedjian I, Gkalea V, Favier M, Daguindau E, Nurden P, Deconinck E
Platelets 2020 May 18;31(4):536-540. Epub 2019 Sep 10 doi: 10.1080/09537104.2019.1663809. PMID: 31502501
Nurden AT
Blood Rev 2019 Jul;36:10-22. Epub 2019 Mar 20 doi: 10.1016/j.blre.2019.03.004. PMID: 31010659
Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders
Haematologica 2017 Jul;102(7):1192-1203. Epub 2017 Apr 6 doi: 10.3324/haematol.2016.160754. PMID: 28385783Free PMC Article
Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, Germain M, Raslova H, Peiretti F, Morange PE, Saut N, Pillois X, Nurden AT, Cambien F, Pierres A, van den Berg TK, Kuijpers TW, Alessi MC, Tregouet DA
J Exp Med 2014 Jun 30;211(7):1349-62. Epub 2014 Jun 23 doi: 10.1084/jem.20130477. PMID: 24958846Free PMC Article

Prognosis

Kulmala LM, Aarnivala H, Pokka T, Huurre A, Järvelä L, Palmu S, Pöyhönen T, Niinimäki R
Pediatr Blood Cancer 2024 Dec;71(12):e31363. Epub 2024 Oct 4 doi: 10.1002/pbc.31363. PMID: 39367594
Oved JH, Lambert MP, Kowalska MA, Poncz M, Karczewski KJ
J Thromb Haemost 2021 Jan;19(1):248-254. Epub 2020 Oct 23 doi: 10.1111/jth.15113. PMID: 33006441
Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders
Haematologica 2017 Jul;102(7):1192-1203. Epub 2017 Apr 6 doi: 10.3324/haematol.2016.160754. PMID: 28385783Free PMC Article
Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM
Haemophilia 2017 May;23(3):e204-e213. Epub 2017 Feb 8 doi: 10.1111/hae.13169. PMID: 28181366
Revel-Vilk S, Richter C, Ben-Ami T, Yacobovich J, Aviner S, Ben-Barak A, Kuperman AA, Ben-Barak S, Kaplinsky C, Miskin H, Tamary H, Kenet G
Blood Cells Mol Dis 2017 Sep;67:59-62. Epub 2016 Dec 18 doi: 10.1016/j.bcmd.2016.11.013. PMID: 27998672

Clinical prediction guides

Kulmala LM, Aarnivala H, Pokka T, Huurre A, Järvelä L, Palmu S, Pöyhönen T, Niinimäki R
Pediatr Blood Cancer 2024 Dec;71(12):e31363. Epub 2024 Oct 4 doi: 10.1002/pbc.31363. PMID: 39367594
Palma-Barqueros V, Revilla N, Zaninetti C, Galera AM, Sánchez-Fuentes A, Zámora-Cánovas A, Bohdan N, Padilla J, Marín-Quilez A, Rodriguez-Alen A, Fuster JL, Greinacher A, Vicente V, Bastida JM, Rivera J, Lozano ML
Blood Adv 2022 Sep 13;6(17):5244-5255. doi: 10.1182/bloodadvances.2021005446. PMID: 35349645Free PMC Article
Oved JH, Lambert MP, Kowalska MA, Poncz M, Karczewski KJ
J Thromb Haemost 2021 Jan;19(1):248-254. Epub 2020 Oct 23 doi: 10.1111/jth.15113. PMID: 33006441
Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zúñiga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P; European Hematology Association - Scientific Working Group (EHA-SWG) on thrombocytopenias and platelet function disorders
Haematologica 2017 Jul;102(7):1192-1203. Epub 2017 Apr 6 doi: 10.3324/haematol.2016.160754. PMID: 28385783Free PMC Article
Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM
Haemophilia 2017 May;23(3):e204-e213. Epub 2017 Feb 8 doi: 10.1111/hae.13169. PMID: 28181366

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