U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
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
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

Diagnosis

Lavender Z, Collin L
JAAPA 2021 Jul 1;34(7):54-55. doi: 10.1097/01.JAA.0000750992.29972.11. PMID: 34162809
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
Bhandari S, Kumar R
N Engl J Med 2019 Apr 18;380(16):e23. doi: 10.1056/NEJMicm1813768. PMID: 30995377
Atrash S, Sajjad H, Jeanette R, Konstantinos A
J Ark Med Soc 2015 Feb;111(9):187-9. PMID: 25993768
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

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
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
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

Prognosis

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
Knöbl P
Hamostaseologie 2017 Aug 7;37(3):211-215. Epub 2016 Nov 21 doi: 10.5482/HAMO-16-07-0026. PMID: 28139813
Garcia G, Atallah JP
J Oncol Pharm Pract 2017 Mar;23(2):135-142. Epub 2016 Jun 23 doi: 10.1177/1078155216628324. PMID: 26854265
Levi M
Clin Adv Hematol Oncol 2003 Nov;1(11):668-71. PMID: 16258468

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

Pinheiro Maux Lessa M, Soares Ferreira Junior A, Graton M, Simon E, Ledbetter L, A Onwuemene O
Blood Rev 2024 Jul;66:101197. Epub 2024 Apr 9 doi: 10.1016/j.blre.2024.101197. PMID: 38614840
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
Karakuş V, Kaya E, Görgülügil GZ, Dere Y, Kurtoğlu E
Transfus Apher Sci 2020 Apr;59(2):102694. Epub 2019 Dec 13 doi: 10.1016/j.transci.2019.102694. PMID: 31882363
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
Franchini M
Crit Rev Oncol Hematol 2007 Jul;63(1):47-52. Epub 2007 Jan 19 doi: 10.1016/j.critrevonc.2006.11.004. PMID: 17236786

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...