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Hereditary thrombocytopenic disorder

MedGen UID:
750265
Concept ID:
C2586012
Disease or Syndrome
SNOMED CT: Hereditary thrombocytopenic disorder (438492008)

Professional guidelines

PubMed

Madkhali MA
Medicine (Baltimore) 2024 Jan 19;103(3):e36936. doi: 10.1097/MD.0000000000036936. PMID: 38241567Free PMC Article
Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Zheng XL, Vesely SK, Cataland SR, Coppo P, Geldziler B, Iorio A, Matsumoto M, Mustafa RA, Pai M, Rock G, Russell L, Tarawneh R, Valdes J, Peyvandi F
J Thromb Haemost 2020 Oct;18(10):2496-2502. Epub 2020 Sep 11 doi: 10.1111/jth.15010. PMID: 32914526Free PMC Article

Recent clinical studies

Etiology

Nusrat S, Beg K, Khan O, Sinha A, George J
Genes (Basel) 2023 Oct 18;14(10) doi: 10.3390/genes14101956. PMID: 37895305Free PMC Article
Quenby S, Booth K, Hiller L, Coomarasamy A, de Jong PG, Hamulyák EN, Scheres LJ, van Haaps TF, Ewington L, Tewary S, Goddijn M, Middeldorp S; ALIFE2 Block Writing Committee; ALIFE2 Investigators
Lancet 2023 Jul 1;402(10395):54-61. Epub 2023 Jun 1 doi: 10.1016/S0140-6736(23)00693-1. PMID: 37271152
Humbert M, McLaughlin V, Gibbs JSR, Gomberg-Maitland M, Hoeper MM, Preston IR, Souza R, Waxman A, Escribano Subias P, Feldman J, Meyer G, Montani D, Olsson KM, Manimaran S, Barnes J, Linde PG, de Oliveira Pena J, Badesch DB; PULSAR Trial Investigators
N Engl J Med 2021 Apr 1;384(13):1204-1215. doi: 10.1056/NEJMoa2024277. PMID: 33789009
Cody EM, Dixon BP
Pediatr Clin North Am 2019 Feb;66(1):235-246. doi: 10.1016/j.pcl.2018.09.011. PMID: 30454746
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757

Diagnosis

Nusrat S, Beg K, Khan O, Sinha A, George J
Genes (Basel) 2023 Oct 18;14(10) doi: 10.3390/genes14101956. PMID: 37895305Free PMC Article
Özdemir GN, Gündüz E
Turk J Haematol 2022 Jun 1;39(2):136-139. Epub 2022 Apr 20 doi: 10.4274/tjh.galenos.2021.2021.0683. PMID: 35439918Free PMC Article
Zheng XL, Vesely SK, Cataland SR, Coppo P, Geldziler B, Iorio A, Matsumoto M, Mustafa RA, Pai M, Rock G, Russell L, Tarawneh R, Valdes J, Peyvandi F
J Thromb Haemost 2020 Oct;18(10):2496-2502. Epub 2020 Sep 11 doi: 10.1111/jth.15010. PMID: 32914526Free PMC Article
Swain F, Bird R
Platelets 2020;31(3):285-290. Epub 2019 Jul 3 doi: 10.1080/09537104.2019.1637835. PMID: 31269407
Cody EM, Dixon BP
Pediatr Clin North Am 2019 Feb;66(1):235-246. doi: 10.1016/j.pcl.2018.09.011. PMID: 30454746

Therapy

Scully M, Antun A, Cataland SR, Coppo P, Dossier C, Biebuyck N, Hassenpflug WA, Kentouche K, Knöbl P, Kremer Hovinga JA, López-Fernández MF, Matsumoto M, Ortel TL, Windyga J, Bhattacharya I, Cronin M, Li H, Mellgård B, Patel M, Patwari P, Xiao S, Zhang P, Wang LT; cTTP Phase 3 Study Investigators
N Engl J Med 2024 May 2;390(17):1584-1596. doi: 10.1056/NEJMoa2314793. PMID: 38692292
Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Humbert M, McLaughlin V, Gibbs JSR, Gomberg-Maitland M, Hoeper MM, Preston IR, Souza R, Waxman A, Escribano Subias P, Feldman J, Meyer G, Montani D, Olsson KM, Manimaran S, Barnes J, Linde PG, de Oliveira Pena J, Badesch DB; PULSAR Trial Investigators
N Engl J Med 2021 Apr 1;384(13):1204-1215. doi: 10.1056/NEJMoa2024277. PMID: 33789009
Zheng XL, Vesely SK, Cataland SR, Coppo P, Geldziler B, Iorio A, Matsumoto M, Mustafa RA, Pai M, Rock G, Russell L, Tarawneh R, Valdes J, Peyvandi F
J Thromb Haemost 2020 Oct;18(10):2496-2502. Epub 2020 Sep 11 doi: 10.1111/jth.15010. PMID: 32914526Free PMC Article
Cody EM, Dixon BP
Pediatr Clin North Am 2019 Feb;66(1):235-246. doi: 10.1016/j.pcl.2018.09.011. PMID: 30454746

Prognosis

Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Fang L, Yu S, Tian X, Fu W, Su L, Chen Z, Yan C, He J, Hong J, Lian W, Liu G, Zhang Y, Zhou J, Hu L
J Thromb Haemost 2023 May;21(5):1336-1351. Epub 2023 Feb 13 doi: 10.1016/j.jtha.2023.02.006. PMID: 36792011
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK
Saudi J Kidney Dis Transpl 2020 Jul-Aug;31(4):865-867. doi: 10.4103/1319-2442.292323. PMID: 32801250
Cody EM, Dixon BP
Pediatr Clin North Am 2019 Feb;66(1):235-246. doi: 10.1016/j.pcl.2018.09.011. PMID: 30454746
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757

Clinical prediction guides

Pang C, Wu X, Nikuze L, Wei H
Platelets 2023 Dec;34(1):2262607. Epub 2023 Oct 18 doi: 10.1080/09537104.2023.2262607. PMID: 37852929
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Adams D, Slama M
Curr Opin Neurol 2020 Oct;33(5):553-561. doi: 10.1097/WCO.0000000000000852. PMID: 32796279
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757
Saha M, McDaniel JK, Zheng XL
J Thromb Haemost 2017 Oct;15(10):1889-1900. Epub 2017 Jul 27 doi: 10.1111/jth.13764. PMID: 28662310Free PMC Article

Recent systematic reviews

Yang D, Ruan Y, Chen Y
J Paediatr Child Health 2023 Mar;59(3):431-438. Epub 2023 Feb 1 doi: 10.1111/jpc.16340. PMID: 36722610
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;2014(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587Free PMC Article

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