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Thrombotic Thrombocytopenic Purpura, Familial

MedGen UID:
365466
Concept ID:
C1956258
Disease or Syndrome
Synonyms: Familial Thrombotic Thrombocytopenia Purpura; Familial Thrombotic Thrombocytopenic Purpura
 
OMIM®: 274150

Professional guidelines

PubMed

Leisring J, Brodsky SV, Parikh SV
Arthritis Rheumatol 2024 Feb;76(2):153-165. Epub 2023 Nov 30 doi: 10.1002/art.42681. PMID: 37610060
Thompson GL, Kavanagh D
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):101-113. doi: 10.1111/ijlh.13954. PMID: 36074708Free 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

Recent clinical studies

Etiology

Leisring J, Brodsky SV, Parikh SV
Arthritis Rheumatol 2024 Feb;76(2):153-165. Epub 2023 Nov 30 doi: 10.1002/art.42681. PMID: 37610060
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
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
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):2486-2495. Epub 2020 Sep 11 doi: 10.1111/jth.15006. PMID: 32914582Free PMC Article
Sheerin NS, Glover E
F1000Res 2019;8 Epub 2019 Sep 25 doi: 10.12688/f1000research.19957.1. PMID: 31598213Free PMC Article

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
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
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):2486-2495. Epub 2020 Sep 11 doi: 10.1111/jth.15006. PMID: 32914582Free PMC Article
Joly BS, Coppo P, Veyradier A
Expert Rev Hematol 2019 Jun;12(6):383-395. Epub 2019 May 20 doi: 10.1080/17474086.2019.1611423. PMID: 31107120
George JN, Nester CM
N Engl J Med 2014 Aug 14;371(7):654-66. doi: 10.1056/NEJMra1312353. PMID: 25119611

Therapy

Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
Mingot Castellano ME, Pascual Izquierdo C, González A, Viejo Llorente A, Valcarcel Ferreiras D, Sebastián E, García Candel F, Sarmiento Palao H, Gómez Seguí I, de la Rubia J, Cid J, Martínez Nieto J, Hernández Mateo L, Goterris Viciedo R, Fidalgo T, Salinas R, Del Rio-Garma J; Grupo Español de Aféresis (GEA)
Med Clin (Barc) 2022 Jun 24;158(12):630.e1-630.e14. Epub 2021 Jul 12 doi: 10.1016/j.medcli.2021.03.040. PMID: 34266669
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
Scully M, Cataland SR, Peyvandi F, Coppo P, Knöbl P, Kremer Hovinga JA, Metjian A, de la Rubia J, Pavenski K, Callewaert F, Biswas D, De Winter H, Zeldin RK; HERCULES Investigators
N Engl J Med 2019 Jan 24;380(4):335-346. Epub 2019 Jan 9 doi: 10.1056/NEJMoa1806311. PMID: 30625070
Wallace K, Harris S, Addison A, Bean C
Curr Pharm Biotechnol 2018;19(10):816-826. doi: 10.2174/1389201019666180712115215. PMID: 29998801

Prognosis

Hanna RM, Henriksen K, Kalantar-Zadeh K, Ferrey A, Burwick R, Jhaveri KD
Adv Chronic Kidney Dis 2022 Mar;29(2):149-160.e1. doi: 10.1053/j.ackd.2021.11.006. PMID: 35817522
Joly BS, Coppo P, Veyradier A
Expert Rev Hematol 2019 Jun;12(6):383-395. Epub 2019 May 20 doi: 10.1080/17474086.2019.1611423. PMID: 31107120
Chiasakul T, Cuker A
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):530-538. doi: 10.1182/asheducation-2018.1.530. PMID: 30504354Free PMC Article
Joly BS, Coppo P, Veyradier A
Eur J Haematol 2018 Oct;101(4):425-434. Epub 2018 Aug 22 doi: 10.1111/ejh.13107. PMID: 29889319
Said A, Haddad RY, Stein R, Lerma EV
Dis Mon 2014 Oct;60(10):500-4. Epub 2014 Sep 30 doi: 10.1016/j.disamonth.2014.08.005. PMID: 25278278

Clinical prediction guides

Genest DS, Patriquin CJ, Licht C, John R, Reich HN
Am J Kidney Dis 2023 May;81(5):591-605. Epub 2022 Dec 10 doi: 10.1053/j.ajkd.2022.10.014. PMID: 36509342
Akwaa F, Antun A, Cataland SR
Blood 2022 Aug 4;140(5):438-444. doi: 10.1182/blood.2021014514. PMID: 35667044
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):2486-2495. Epub 2020 Sep 11 doi: 10.1111/jth.15006. PMID: 32914582Free PMC Article
Chiasakul T, Cuker A
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):530-538. doi: 10.1182/asheducation-2018.1.530. PMID: 30504354Free PMC Article
Bendapudi PK, Hurwitz S, Fry A, Marques MB, Waldo SW, Li A, Sun L, Upadhyay V, Hamdan A, Brunner AM, Gansner JM, Viswanathan S, Kaufman RM, Uhl L, Stowell CP, Dzik WH, Makar RS
Lancet Haematol 2017 Apr;4(4):e157-e164. Epub 2017 Mar 2 doi: 10.1016/S2352-3026(17)30026-1. PMID: 28259520

Recent systematic reviews

Lee NCJ, Yates S, Rambally S, Sarode R, Ibrahim IF, Shen YM, Hofmann SL, Bavli NR
Br J Haematol 2024 Feb;204(2):638-643. Epub 2023 Aug 12 doi: 10.1111/bjh.19035. PMID: 37571963
Schofield J, Hosseinzadeh S, Burton K, Pavord S, Dutt T, Doree C, Lim WY, Desborough MJR
Br J Haematol 2023 May;201(4):766-773. Epub 2022 Dec 7 doi: 10.1111/bjh.18577. PMID: 36477772
Saluja P, Gautam N, Yadala S, Venkata AN
Thromb Res 2022 Jun;214:115-121. Epub 2022 May 2 doi: 10.1016/j.thromres.2022.04.020. PMID: 35533526Free PMC Article
Louw S, Jacobson BF, Wiggill TM, Chapanduka Z, Sarah Mayne E
HIV Med 2022 Nov;23(10):1033-1040. Epub 2022 Apr 3 doi: 10.1111/hiv.13305. PMID: 35373442Free PMC Article
Al-Nouri ZL, Reese JA, Terrell DR, Vesely SK, George JN
Blood 2015 Jan 22;125(4):616-8. Epub 2014 Nov 20 doi: 10.1182/blood-2014-11-611335. PMID: 25414441Free PMC Article

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