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| | __NOTOC__ |
| {{Infobox_Disease | | | {{Infobox_Disease | |
| Name = {{PAGENAME}} | | | Name = {{PAGENAME}} | |
| Image = Kasabach-Merritt Syndrome.jpg| | | Image = Kasabach-Merritt Syndrome.jpg| |
| Caption = | | | Caption = Skin: Kasabach-Merritt Syndrome; Red Papules and Nodules. <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small> | |
| DiseasesDB = 30701 | | | DiseasesDB = 30701 | |
| ICD10 = | | | ICD10 = | |
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| OMIM = 141000 | | | OMIM = 141000 | |
| MedlinePlus = | | | MedlinePlus = | |
| eMedicineSubj = med |
| | MeshID = | |
| eMedicineTopic = 1221 |
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| eMedicine_mult = {{eMedicine2|ped|1234}} |
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| MeshID = |
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| }} | | }} |
| {{SI}} | | {{Kasabach-Merritt syndrome}} |
| {{CMG}} | | {{CMG}} |
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| {{EH}} | | {{SK}} Kasabach-Merritt syndrome; thrombocytopenia-hemangioma syndrome |
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| '''Kasabach-Merritt Syndrome''' ('''KMS''') is a [[rare disease]], usually of [[infant]]s, in which a [[vascular tumor]] leads to decreased [[platelet]] counts and sometimes other [[Clotting#Disorders of hemostasis|bleeding problems]],<ref name="Hall2001">{{cite journal
| | ==[[Kasabach-Merritt syndrome overview|Overview]]== |
| | author=Hall G
| | ==[[Kasabach-Merritt syndrome historical perspective|Historical Perspective]]== |
| | title=Kasabach-Merritt syndrome: pathogenesis and management.
| | ==[[Kasabach-Merritt syndrome pathophysiology |Pathophysiology]]== |
| | journal=Br J Haematol
| | ==[[Kasabach-Merritt syndrome causes|Causes]]== |
| | volume=112
| | ==[[Kasabach-Merritt syndrome differential diagnosis|Differentiating Kasabach-Merritt syndrome from other Diseases]]== |
| | issue=4
| | ==[[Kasabach-Merritt syndrome epidemiology and demographics|Epidemiology and Demographics]]== |
| | pages=851-62
| | ==[[Kasabach-Merritt syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| | year=2001
| | ==Diagnosis== |
| | id=PMID 11298580}}</ref> which can be life-threatening.<ref name="Shim1968">{{cite journal
| | [[Kasabach-Merritt syndrome history and symptoms|History and Symptoms]] | [[Kasabach-Merritt syndrome physical examination|Physical Examination]] | [[Kasabach-Merritt syndrome laboratory findings|Laboratory Findings]] | [[Kasabach-Merritt syndrome CT|CT]] | [[Kasabach-Merritt syndrome MRI|MRI]] | [[Kasabach-Merritt syndrome echocardiography or ultrasound|Echcardiography or Ultrasound]] | [[Kasabach-Merritt syndrome other imaging findings|Other Imaging Findings]] | [[Kasabach-Merritt syndrome other diagnostic studies|Other Diagnostic Studies]] |
| | author=Shim W | |
| | title=Hemangiomas of infancy complicated by thrombocytopenia.
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| | journal=Am J Surg | |
| | volume=116
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| | issue=6
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| | pages=896-906
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| | year=1968
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| | id=PMID 4881491}}</ref> It is also known as '''hemangioma thrombocytopenia syndrome'''.
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| ==Pathophysiology== | | ==Treatment== |
| | | [[Kasabach-Merritt syndrome medical therapy|Medical Therapy]] | [[Kasabach-Merritt syndrome surgery|Surgery]] | [[Kasabach-Merritt syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Kasabach-Merritt syndrome future or investigational therapies|Future or Investigational Therapies]] |
| KMS is usually caused by a [[hemangioendothelioma]] or other [[vascular tumor]], often present at birth.<ref name="Enjolras1997">{{cite journal
| | ==Case Studies== |
| | author=Enjolras O, Wassef M, Mazoyer E, Frieden I, Rieu P, Drouet L, Taïeb A, Stalder J, Escande J
| | :[[Kasabach-Merritt syndrome case study one|Case #1]] |
| | title=Infants with Kasabach-Merritt syndrome do not have "true" hemangiomas.
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| | journal=J Pediatr
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| | volume=130
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| | issue=4
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| | pages=631-40
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| | year=1997
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| | id=PMID 9108863}}</ref><ref name="el-Dessouky1988">{{cite journal
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| | author=el-Dessouky M, Azmy A, Raine P, Young D
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| | title=Kasabach-Merritt syndrome.
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| | journal=J Pediatr Surg
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| | volume=23
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| | issue=2
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| | pages=109-11
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| | year=1988
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| | id=PMID 3278084}}</ref> Although these tumors are relatively common, it is rare for them to cause KMS.
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| When these tumors are large or are growing rapidly, sometimes they can trap [[platelet]]s, causing severe [[thrombocytopenia]]. The combination of vascular tumor and consumptive thrombocytopenia defines KMS. Tumors can be found in the trunk, upper and lower extremities, retroperioneum, and in the cervical and facial areas.<ref name="Hall2001"/>
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| This [[consumptive coagulopathy]] also uses up [[clotting factors]], such as [[fibrinogen]] which may worsen bleeding. The coagulopathy can progress to [[disseminated intravascular coagulation]] and even death.<ref name="Hall2001"/>
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| ==Diagnostic workup==
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| The diagnostic workup<ref name="Krafchik2005">{{cite web
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| | last =Krafchik
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| | first =Bernice R
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| | date = [[2005-12-19]]
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| | url =http://www.emedicine.com/MED/topic1221.htm
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| | title =Kasabach-Merritt Syndrome
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| | work =eMedicine - Hematology
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| | publisher =WebMD
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| | accessdate =2006-05-15}}</ref> is directed by the presenting signs and symptoms, and can involve:
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| *blood counts, clotting studies, and other laboratory testing
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| *imaging tests ([[Medical ultrasonography|ultrasound]], [[CT scan]], [[MRI]], sometimes [[angiography]], and rarely [[nuclear medicine]] scans)
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| *[[biopsy]] of the tumor.
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| Patients uniformly show severe thrombocytopenia, low [[fibrinogen]] levels, high [[fibrin degradation products]] (due to [[fibrinolysis]]), and [[microangiopathic hemolytic anemia|microangiopathic hemolysis]].<ref name="Hall2001"/>
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| ==Management==
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| Management of KMS, particularly in severe cases, can be complex and require the joint effort of multiple subspecialists. This is a rare disease with no consensus treatment guidelines or large randomized controlled trials to guide therapy.
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| ===Supportive care===
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| Patients with KMS can be extremely ill and may need [[intensive care]]. They are at risk of bleeding complications including [[intracranial hemorrhage]]. The thrombocytopenia and coagulopathy are managed with platelet transfusions and [[fresh frozen plasma]], although caution is needed due to the risk of [[fluid overload]] and [[heart failure]] from multiple transfusions. The possibility of [[disseminated intravascular coagulation]], a dangerous and difficult-to-manage condition, is concerning. [[Anticoagulant]] and antiplatelet medications can be used after careful assessment of the risks and benefits.<ref name="Krafchik2005"/>
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| ===Definitive treatment=== | |
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| Generally, treatment of the underlying vascular tumor results in resolution of KMS. If complete [[surgical resection]] is feasible, it provides a good opportunity for cure (although it can be dangerous to operate on a vascular tumor in a patient prone to bleeding, even with appropriate surgical subspecialists involved).<ref name="Krafchik2005"/>
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| If surgery is not possible, various other techniques <ref name="Hall2001"/> can be used to control the tumor:
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| :*[[embolization]] (by [[interventional radiology]]) can limit the tumor's blood supply
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| :*external [[compression bandage]]s can have similar effects
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| :*certain medications, including:
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| :**[[corticosteroid]]s
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| :**[[alpha-interferon]]
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| :**[[chemotherapy]] (e.g. [[vincristine]])
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| :*[[radiation therapy]] has been used, often successfully, but now is avoided whenever possible due to the risk of long-term adverse effects (e.g. risk for future cancer). | |
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| ==Outcomes==
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| KMS has a mortality rate of about 30%. For patients that survive the acute disease, supportive care may be required through a gradual recovery.
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| Furthermore, patients may need care from a [[dermatologist]] or [[plastic surgeon]] for residual cosmetic lesions. On long-term followup, most patients have skin discoloration and/or mild disfiguration from the dormant tumor.<ref name="Enjolras2000">{{cite journal
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| | author=Enjolras O, Mulliken J, Wassef M, Frieden I, Rieu P, Burrows P, Salhi A, Léauté-Labrèze C, Kozakewich H
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| | title=Residual lesions after Kasabach-Merritt phenomenon in 41 patients.
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| | journal=J Am Acad Dermatol
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| | volume=42
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| | issue=2 Pt 1
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| | pages=225-35
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| | year=2000
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| | id=PMID 10642677}}</ref>
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| ==References==
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| {{Reflist|2}}
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| ==External links==
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| * {{WhoNamedIt|synd|3861}}
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| {{SIB}}
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| [[Category:Hematology]] | | [[Category:Hematology]] |
