|Classification and external resources|
|ICD-10||D69.5 (ILDS D69.507)|
Kasabach–Merritt syndrome (KMS), also known as Hemangioma with thrombocytopenia is a rare disease, usually of infants, in which a vascular tumor leads to decreased platelet counts and sometimes other bleeding problems, which can be life-threatening. It is also known as hemangioma thrombocytopenia syndrome. It is named after Haig Haigouni Kasabach and Katharine Krom Merritt, the two pediatricians who first described the condition in 1940.
When these tumors are large or are growing rapidly, sometimes they can trap platelets, causing severe thrombocytopenia. The combination of vascular tumor and consumptive thrombocytopenia defines KMS. Tumors can be found in the trunk, upper and lower extremities, retroperitoneum, and in the cervical and facial areas.
The diagnostic workup is directed by the presenting signs and symptoms, and can involve:
- blood counts, clotting studies, and other laboratory testing
- imaging tests (ultrasound, CT scan, MRI, sometimes angiography, and rarely nuclear medicine scans)
- biopsy of the tumor.
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.
Patient 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.
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).
If surgery is not possible, various other techniques can be used to control the tumor:
- embolization (by interventional radiology) can limit the tumor's blood supply
- external compression bandages can have similar effects
- certain medications, including:
- 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).
KMS has a mortality rate of about 30%. For patients that survive the acute disease, supportive care may be required through a gradual recovery.
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.
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