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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.
Autosomal recessive inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
 
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

Diagnosis and treatment of thrombotic microangiopathy.
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
ISTH guidelines for treatment of thrombotic thrombocytopenic purpura.
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
Haemolytic uremic syndrome: diagnosis and management.
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

Clinical Evaluation and Management of Thrombotic Microangiopathy.
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
Hereditary Thrombotic Thrombocytopenic Purpura.
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
Pregnancy-Related Acute Kidney Injury: Do We Know What to Do?
Shah S, Verma P
Nephron 2023;147(1):35-38. Epub 2022 Jul 6 doi: 10.1159/000525492. PMID: 35793648Free PMC Article
Advances in the management of TTP.
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
Thrombocytopenia in pregnancy: Diagnosis and approach to management.
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

Hereditary Thrombotic Thrombocytopenic Purpura.
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
Frontiers in pathophysiology and management of thrombotic thrombocytopenic purpura.
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
Advances in the management of TTP.
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura.
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
Thrombotic thrombocytopenic purpura.
Atrash S, Sajjad H, Jeanette R, Konstantinos A
J Ark Med Soc 2015 Feb;111(9):187-9. PMID: 25993768

Therapy

Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura.
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
Frontiers in pathophysiology and management of thrombotic thrombocytopenic purpura.
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
Advances in the management of TTP.
Subhan M, Scully M
Blood Rev 2022 Sep;55:100945. Epub 2022 Feb 17 doi: 10.1016/j.blre.2022.100945. PMID: 35216839
Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura.
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
HELLP Syndrome: Pathophysiology and Current Therapies.
Wallace K, Harris S, Addison A, Bean C
Curr Pharm Biotechnol 2018;19(10):816-826. doi: 10.2174/1389201019666180712115215. PMID: 29998801

Prognosis

Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.
Béranger N, Coppo P, Tsatsaris V, Boisseau P, Provôt F, Delmas Y, Poullin P, Vanhoorelbeke K, Veyradier A, Joly BS
Blood Adv 2024 Jan 9;8(1):183-193. doi: 10.1182/bloodadvances.2023011972. PMID: 38039511Free PMC Article
Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies.
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
An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura.
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
Etiology and Outcomes of Thrombotic Microangiopathies.
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
Pediatric thrombotic thrombocytopenic purpura.
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

Clinical prediction guides

Renal Thrombotic Microangiopathy: A Review.
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
How I treat immune-mediated thrombotic thrombocytopenic purpura after hospital discharge.
Akwaa F, Antun A, Cataland SR
Blood 2022 Aug 4;140(5):438-444. doi: 10.1182/blood.2021014514. PMID: 35667044
ISTH guidelines for the diagnosis of thrombotic thrombocytopenic purpura.
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
Clinical and laboratory diagnosis of TTP: an integrated approach.
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
Thrombotic microangiopathies of pregnancy: Differential diagnosis.
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

Bortezomib in relapsed/refractory immune thrombotic thrombocytopenic purpura: A single-centre retrospective cohort and systematic literature review.
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
Adding caplacizumab to standard of care in thrombotic thrombocytopenic purpura: a systematic review and meta-analysis.
Djulbegovic M, Tong J, Xu A, Yang J, Chen Y, Cuker A, Pishko AM
Blood Adv 2023 May 23;7(10):2132-2142. doi: 10.1182/bloodadvances.2022008443. PMID: 36053773Free PMC Article
Thrombotic thrombocytopenic purpura (TTP) after COVID-19 vaccination: A systematic review of reported cases.
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
HIV-associated thrombotic thrombocytopenic purpura (HIV-TTP): A practical guide and review of the literature.
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
Drug-induced thrombotic microangiopathy: a systematic review of published reports.
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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