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Syndromic constitutional thrombocytopenia

MedGen UID:
1843101
•Concept ID:
C5681257
•
Disease or Syndrome
Synonym: syndromic constitutional thrombocytopenia
 
Monarch Initiative: MONDO:0018795
Orphanet: ORPHA477794

Professional guidelines

PubMed

Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura.
Kremer Hovinga JA, Lämmle B
Hematology Am Soc Hematol Educ Program 2012;2012:610-6. doi: 10.1182/asheducation-2012.1.610. PMID: 23233642
An update on the pathogenesis and management of acquired thrombotic thrombocytopenic purpura.
Yarranton H, Machin SJ
Curr Opin Neurol 2003 Jun;16(3):367-73. doi: 10.1097/01.wco.0000073939.19076.78. PMID: 12858075
Myelodysplastic syndromes in children. A critical review of the clinical manifestations and management.
Novitzky N
Am J Hematol 2000 Apr;63(4):212-22. doi: 10.1002/(sici)1096-8652(200004)63:4<212::aid-ajh9>3.0.co;2-d. PMID: 10706766

Recent clinical studies

Etiology

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
TAFRO syndrome: New subtype of idiopathic multicentric Castleman disease.
Srkalovic G, Marijanovic I, Srkalovic MB, Fajgenbaum DC
Bosn J Basic Med Sci 2017 May 20;17(2):81-84. doi: 10.17305/bjbms.2017.1930. PMID: 28135567Free PMC Article
Hematological disorders and leukemia in children with Down syndrome.
Bruwier A, Chantrain CF
Eur J Pediatr 2012 Sep;171(9):1301-7. Epub 2011 Nov 24 doi: 10.1007/s00431-011-1624-1. PMID: 22113227
Cholesterol embolization syndrome.
Saric M, Kronzon I
Curr Opin Cardiol 2011 Nov;26(6):472-9. doi: 10.1097/HCO.0b013e32834b7fdd. PMID: 21993354
Thrombotic thrombocytopenic purpura.
Lämmle B, Kremer Hovinga JA, Alberio L
J Thromb Haemost 2005 Aug;3(8):1663-75. doi: 10.1111/j.1538-7836.2005.01425.x. PMID: 16102032

Diagnosis

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction.
Ibrahim-Kosta M, Alessi MC, Hezard N
Hamostaseologie 2020 Nov;40(4):444-459. Epub 2020 Sep 15 doi: 10.1055/a-1223-3306. PMID: 32932546
Waldenstrom's macroglobulinemia in the era of immunotherapy.
Vaxman I, Gertz M
Leuk Lymphoma 2020 Jun;61(6):1292-1304. Epub 2020 Jan 21 doi: 10.1080/10428194.2020.1711901. PMID: 31960730
Cholesterol embolization syndrome.
Saric M, Kronzon I
Curr Opin Cardiol 2011 Nov;26(6):472-9. doi: 10.1097/HCO.0b013e32834b7fdd. PMID: 21993354
Thrombotic thrombocytopenic purpura.
Lämmle B, Kremer Hovinga JA, Alberio L
J Thromb Haemost 2005 Aug;3(8):1663-75. doi: 10.1111/j.1538-7836.2005.01425.x. PMID: 16102032

Therapy

Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia.
Frączkiewicz J, Sęga-Pondel D, Kazanowska B, Ussowicz M
J Pediatr Hematol Oncol 2020 Mar;42(2):113-117. doi: 10.1097/MPH.0000000000001528. PMID: 31205222
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
The contribution of mouse models to the understanding of constitutional thrombocytopenia.
Léon C, Dupuis A, Gachet C, Lanza F
Haematologica 2016 Aug;101(8):896-908. doi: 10.3324/haematol.2015.139394. PMID: 27478199Free PMC Article
Hematological disorders and leukemia in children with Down syndrome.
Bruwier A, Chantrain CF
Eur J Pediatr 2012 Sep;171(9):1301-7. Epub 2011 Nov 24 doi: 10.1007/s00431-011-1624-1. PMID: 22113227
Clinical toxicity of cytokines used as haemopoietic growth factors.
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081

Prognosis

Covid-19: The Rollercoaster of Fibrin(Ogen), D-Dimer, Von Willebrand Factor, P-Selectin and Their Interactions with Endothelial Cells, Platelets and Erythrocytes.
Grobler C, Maphumulo SC, Grobbelaar LM, Bredenkamp JC, Laubscher GJ, Lourens PJ, Steenkamp J, Kell DB, Pretorius E
Int J Mol Sci 2020 Jul 21;21(14) doi: 10.3390/ijms21145168. PMID: 32708334Free PMC Article
TAFRO syndrome: New subtype of idiopathic multicentric Castleman disease.
Srkalovic G, Marijanovic I, Srkalovic MB, Fajgenbaum DC
Bosn J Basic Med Sci 2017 May 20;17(2):81-84. doi: 10.17305/bjbms.2017.1930. PMID: 28135567Free PMC Article
Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry.
Mansouri Taleghani M, von Krogh AS, Fujimura Y, George JN, Hrachovinová I, Knöbl PN, Quist-Paulsen P, Schneppenheim R, Lämmle B, Kremer Hovinga JA
Hamostaseologie 2013 May 29;33(2):138-43. doi: 10.5482/HAMO-13-04-0026. PMID: 23715103
Hematological disorders and leukemia in children with Down syndrome.
Bruwier A, Chantrain CF
Eur J Pediatr 2012 Sep;171(9):1301-7. Epub 2011 Nov 24 doi: 10.1007/s00431-011-1624-1. PMID: 22113227
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286

Clinical prediction guides

Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions.
van den Akker TA, Liu YC, Liu H, Chapman J, Levine JM, Weinberg OK, Geyer JT
Pathobiology 2024;91(1):89-98. Epub 2023 Mar 30 doi: 10.1159/000530431. PMID: 36996802Free PMC Article
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
Clinical and Laboratory Profile of Persons Living with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome and Histoplasmosis from a Colombian Hospital.
Caceres DH, Tobón AM, Cleveland AA, Scheel CM, Berbesi DY, Ochoa J, Restrepo A, Brandt ME, Chiller T, Gómez BL
Am J Trop Med Hyg 2016 Oct 5;95(4):918-924. Epub 2016 Aug 1 doi: 10.4269/ajtmh.15-0837. PMID: 27481056Free PMC Article
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286
Clinical toxicity of cytokines used as haemopoietic growth factors.
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081

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