Kasabach-Merritt syndrome arising from a vascular fistula

Famularo, Giuseppe; Galluzzo, Michele; Ottaviani, P; Trevisi, Patrizia

doi:10.1016/j.ajem.2019.04.013

Cited by 2 publications

(2 citation statements)

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“…The pathological process of KMS involves the activation and capture of platelets and coagulation factors by the vascular lesions, which causes thrombocytopenia, disseminated intravascular coagulation, and even massive hemorrhage. Vascular lesions correlated with KMS include giant vascular tumors, vascular malformations, and vascular fistulas ( 18 ). Furthermore, immune activation, cytokines, and inflammation are considered important contributors to promoting the progression of KMS ( 19 ).…”

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confidence: 99%

Case Report: CTC1 mutations in a patient with diffuse hepatic and splenic hemangiomatosis complicated by Kasabach–Merritt syndrome

Guo

Niu

2023

Front. Oncol.

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Diffuse hemangiomatosis of the liver and spleen is rare. Currently, few studies are available on diffuse hepatic and splenic hemangiomatosis accompanied by Kasabach–Merritt syndrome (KMS). The conserved telomere maintenance component 1 (CTC1) gene contributes to telomere maintenance and replication by forming the telomeric capping complex. Herein, we report a case of diffuse hemangiomatosis in the liver and spleen accompanied by KMS in a 59-year-old woman who carried two novel heterozygous CTC1 variants: c.435+9A>C and c.3074C>T (p.Ala1025Val). Using next-generation sequencing, we detected mutations in the CTC1 gene in our patient, who had chief complaints of fatigue and abdominal distension complicated by severe thrombocytopenia and consumptive coagulopathy. Clinical symptoms, laboratory tests, and imaging findings led to the diagnosis of diffuse hepatic and splenic hemangiomatosis accompanied by KMS. The patient was treated with prednisone, thalidomide, and sirolimus, and her general condition was ameliorated at the 4-month follow-up with improved platelet count and coagulation function. A CTC1 gene mutation may be involved in the pathological process of vascular diseases. A combination treatment regimen of prednisone, thalidomide, and sirolimus may be effective for KMS.

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Section: Discussionmentioning

confidence: 99%

Case Report: CTC1 mutations in a patient with diffuse hepatic and splenic hemangiomatosis complicated by Kasabach–Merritt syndrome

Guo

Niu

2023

Front. Oncol.

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“…We know that the syndrome is associated with giant vascular tumors, hematomas, and Rendu-Osler disease, [1][2][3] but there are also reports of association with small vascular lesions such as fistulas with a high turbulence of the blood flow. 4 No definite correlation has been reported among site, size, and number of vascular lesions and the development of the Kasabach-Merritt syndrome. 2 This raises the question if the size and extension of the vascular lesions as well as the turbulence of the blood flow are indeed true independent triggers of the syndrome.…”

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confidence: 99%