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Kasabach-Merritt syndrome(KMS)

MedGen UID:
65122
Concept ID:
C0221025
Disease or Syndrome
Synonym: Hemangioma thrombocytopenia syndrome
SNOMED CT: Hemangioma-hemorrhage syndrome (86635005); Hemangiomatosis with thrombocytopenia (86635005); Kasabach-Merritt syndrome (86635005); Thrombocytopenia-hemangioma syndrome (86635005); Kasabach Merritt syndrome (86635005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007708
OMIM®: 141000
Orphanet: ORPHA2330

Definition

Although cutaneous hemangiomas are common benign tumors in neonates, they can be life-threatening when they are associated with thrombocytopenia, consumptive coagulopathy, microangiopathic hemolytic anemia, and rapid enlargement, a clinical presentation known as Kasabach-Merritt syndrome (KMS). Untreated, KMS has a 10 to 37% mortality rate (Szlachetka, 1998). With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered. Reviews Szlachetka (1998) reviewed the approximately 205 reported cases of KMS and discussed the pathophysiology, clinical manifestations, differential diagnosis, and treatment modalities of the disorder. [from OMIM]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Microangiopathic hemolytic anemia
MedGen UID:
65120
Concept ID:
C0221021
Disease or Syndrome
Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKasabach-Merritt syndrome
Follow this link to review classifications for Kasabach-Merritt syndrome in Orphanet.

Professional guidelines

PubMed

Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Toro A, Mahfouz AE, Ardiri A, Malaguarnera M, Malaguarnera G, Loria F, Bertino G, Di Carlo I
Ann Hepatol 2014 Jul-Aug;13(4):327-39. PMID: 24927603
Hall GW
Br J Haematol 2001 Mar;112(4):851-62. doi: 10.1046/j.1365-2141.2001.02453.x. PMID: 11298580

Recent clinical studies

Etiology

Borst AJ, Eng W, Griffin M, Ricci KW, Engel E, Adams DM, Dayneka J, Cohen-Cutler SJ, Andreoli SM, Wu MD, Wheeler AP, Heym KM, Crary SE, Nakano TA, Schulte RR, Setty BA, McLean TW, Pahl KS, Intzes S, Pateva I, Teitelbaum M, Zong Z, Li Y, Jeng MR
Pediatr Blood Cancer 2024 Mar;71(3):e30779. Epub 2023 Dec 10 doi: 10.1002/pbc.30779. PMID: 38073018
Mack JM, Crary SE
Pediatr Blood Cancer 2022 Aug;69 Suppl 3:e29353. doi: 10.1002/pbc.29353. PMID: 36070211
Ricci KW, Brandão LR
Semin Pediatr Surg 2020 Oct;29(5):150966. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150966. PMID: 33069295
Ji Y, Chen S, Yang K, Xia C, Li L
Orphanet J Rare Dis 2020 Feb 3;15(1):39. doi: 10.1186/s13023-020-1320-1. PMID: 32014025Free PMC Article
Liu X, Yang Z, Tan H, Xu L, Sun Y, Si S, Liu L, Zhou W, Huang J
Medicine (Baltimore) 2017 Aug;96(31):e7688. doi: 10.1097/MD.0000000000007688. PMID: 28767598Free PMC Article

Diagnosis

Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Mansfield SA, Williams RF, Iacobas I
Semin Pediatr Surg 2020 Oct;29(5):150975. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150975. PMID: 33069294
Ji Y, Chen S, Yang K, Xia C, Li L
Orphanet J Rare Dis 2020 Feb 3;15(1):39. doi: 10.1186/s13023-020-1320-1. PMID: 32014025Free PMC Article
Fernández Y, Bernabeu-Wittel M, García-Morillo JS
Eur J Intern Med 2009 Mar;20(2):106-13. Epub 2008 Aug 15 doi: 10.1016/j.ejim.2008.06.008. PMID: 19327597
Hall GW
Br J Haematol 2001 Mar;112(4):851-62. doi: 10.1046/j.1365-2141.2001.02453.x. PMID: 11298580

Therapy

Otomi K, Yamada A, Kurogi J, Kamimura S, Moritake H
Pediatr Int 2023 Jan-Dec;65(1):e15593. doi: 10.1111/ped.15593. PMID: 37615371
Zhao Y, Legan CE
Am J Case Rep 2022 May 23;23:e936042. doi: 10.12659/AJCR.936042. PMID: 35796001Free PMC Article
Pati S, Das MK, Rana A, Das E, Sarkar S, Sherpa N, Datta S
Indian J Pediatr 2021 Nov;88(11):1142-1144. Epub 2021 Jun 9 doi: 10.1007/s12098-021-03817-2. PMID: 34106442
Toro A, Mahfouz AE, Ardiri A, Malaguarnera M, Malaguarnera G, Loria F, Bertino G, Di Carlo I
Ann Hepatol 2014 Jul-Aug;13(4):327-39. PMID: 24927603
Hall GW
Br J Haematol 2001 Mar;112(4):851-62. doi: 10.1046/j.1365-2141.2001.02453.x. PMID: 11298580

Prognosis

Zhang XM, Tong Y, Li Q, He Q
BMC Gastroenterol 2020 Mar 30;20(1):80. doi: 10.1186/s12876-020-01216-z. PMID: 32228471Free PMC Article
Fujii F, Kimura T, Tanaka N, Kubota D, Sugiura A, Umemura T, Wada S, Tanaka E
Ann Hepatol 2018 July - August ,;17(4):655-660. doi: 10.5604/01.3001.0012.0949. PMID: 29893706
Wong BL, Lee VN, Tikka T, Kim D, Dwivedi RC
Crit Rev Oncol Hematol 2016 Aug;104:156-68. Epub 2016 Jun 16 doi: 10.1016/j.critrevonc.2016.06.005. PMID: 27365122
Sridhar S, Kuruvilla KA
Indian Pediatr 2005 Oct;42(10):1045-6. PMID: 16269845
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320

Clinical prediction guides

Fantasia I, Polsinelli V, Ambrosii S, Tabacco S, Stanislao V, Ludovisi M, Dotta A, Conforti A, D'Alfonso A, Di Fabio S, Guido M
J Matern Fetal Neonatal Med 2023 Dec;36(2):2274803. Epub 2023 Oct 31 doi: 10.1080/14767058.2023.2274803. PMID: 37908053
Kapp FG, Schneider C, Holm A, Glonnegger H, Niemeyer CM, Rößler J, Zieger B
Biomolecules 2022 Dec 8;12(12) doi: 10.3390/biom12121840. PMID: 36551267Free PMC Article
Tribolet S, Hoyoux C, Boon LM, Cheruy C, Demarche M, Jamblin P, Roberti A, Willemaers V, Viellevoye R, Rigo V, Broux I
Arch Pediatr 2019 Sep;26(6):365-369. Epub 2019 Jul 25 doi: 10.1016/j.arcped.2019.06.003. PMID: 31353149
Mudaliar S, Liu K, Pavendranathan G, Kench JG, Strasser SI
J Gastroenterol Hepatol 2019 Oct;34(10):1675. Epub 2019 May 28 doi: 10.1111/jgh.14676. PMID: 31137080
Hoekstra LT, Bieze M, Erdogan D, Roelofs JJ, Beuers UH, van Gulik TM
Expert Rev Gastroenterol Hepatol 2013 Mar;7(3):263-8. doi: 10.1586/egh.13.10. PMID: 23445235

Recent systematic reviews

Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Prodromidou A, Machairas N, Garoufalia Z, Kostakis ID, Tsaparas P, Paspala A, Stamopoulos P, Sotiropoulos GC
Transplant Proc 2019 Mar;51(2):440-442. Epub 2019 Jan 4 doi: 10.1016/j.transproceed.2019.01.018. PMID: 30879561
Peng S, Yang K, Xu Z, Chen S, Ji Y
J Paediatr Child Health 2019 Sep;55(9):1119-1124. Epub 2019 Jan 2 doi: 10.1111/jpc.14370. PMID: 30604513
Yao W, Li K, Wang Z, Pei J, Liu X, Zheng S, Dong K
Eur J Pediatr Surg 2019 Oct;29(5):401-407. Epub 2018 Oct 29 doi: 10.1055/s-0038-1673708. PMID: 30372769
Liu XH, Li JY, Qu XH, Yan WL, Zhang L, Yang C, Zheng JW
Int J Cancer 2016 Oct 1;139(7):1658-66. Epub 2016 Jun 28 doi: 10.1002/ijc.30216. PMID: 27252149

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