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Thrombotic thrombocytopenic purpura

MedGen UID:
48266
Concept ID:
C0034155
Disease or Syndrome
Synonyms: Moschkowitz Disease; Moschowitz syndrome
SNOMED CT: Thrombotic thrombocytopenic purpura (78129009); Moschowitz's syndrome (78129009); Moschcowitz syndrome (78129009); TTP - thrombotic thrombocytopenic purpura (78129009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Monarch Initiative: MONDO:0018896
Orphanet: ORPHA54057

Definition

An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThrombotic thrombocytopenic purpura
Follow this link to review classifications for Thrombotic thrombocytopenic purpura in Orphanet.

Professional guidelines

PubMed

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
Sheerin NS, Glover E
F1000Res 2019;8 Epub 2019 Sep 25 doi: 10.12688/f1000research.19957.1. PMID: 31598213Free 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
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
Pishko AM, Levine LD, Cines DB
Blood Rev 2020 Mar;40:100638. Epub 2019 Nov 6 doi: 10.1016/j.blre.2019.100638. PMID: 31757523

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
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
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
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
Atrash S, Sajjad H, Jeanette R, Konstantinos A
J Ark Med Soc 2015 Feb;111(9):187-9. PMID: 25993768

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
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
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

Werion A, Storms P, Zizi Y, Beguin C, Bernards J, Cambier JF, Dahan K, Dierickx D, Godefroid N, Hilbert P, Lambert C, Levtchenko E, Meyskens T, Poiré X, van den Heuvel L, Claes KJ, Morelle J; UCLouvain TMA/HUS Network and KU Leuven TMA/HUS Network
Clin J Am Soc Nephrol 2023 Jul 1;18(7):881-891. Epub 2023 Apr 21 doi: 10.2215/CJN.0000000000000182. PMID: 37094330Free 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
Bayer G, von Tokarski F, Thoreau B, Bauvois A, Barbet C, Cloarec S, Mérieau E, Lachot S, Garot D, Bernard L, Gyan E, Perrotin F, Pouplard C, Maillot F, Gatault P, Sautenet B, Rusch E, Buchler M, Vigneau C, Fakhouri F, Halimi JM
Clin J Am Soc Nephrol 2019 Apr 5;14(4):557-566. Epub 2019 Mar 12 doi: 10.2215/CJN.11470918. PMID: 30862697Free 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
Kwaan HC
JAMA 1982 Jun 11;247(22):3119-20. doi: 10.1001/jama.1982.03320470065038. PMID: 7200536

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
Gupta M, Feinberg BB, Burwick RM
Pregnancy Hypertens 2018 Apr;12:29-34. Epub 2018 Feb 16 doi: 10.1016/j.preghy.2018.02.007. PMID: 29674195

Recent systematic reviews

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
Zakarija A, Kwaan HC, Moake JL, Bandarenko N, Pandey DK, McKoy JM, Yarnold PR, Raisch DW, Winters JL, Raife TJ, Cursio JF, Luu TH, Richey EA, Fisher MJ, Ortel TL, Tallman MS, Zheng XL, Matsumoto M, Fujimura Y, Bennett CL
Kidney Int Suppl 2009 Feb;(112):S20-4. doi: 10.1038/ki.2008.613. PMID: 19180126Free PMC Article
Hawkins BM, Abu-Fadel M, Vesely SK, George JN
Transfusion 2008 Feb;48(2):382-92. Epub 2007 Nov 19 doi: 10.1111/j.1537-2995.2007.01534.x. PMID: 18028268

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