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Severe kaposiform hemangioendothelioma associated with Kasabach-Merritt Syndrome – genes need to be identified

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: G. S. Doros, B. S. Zoica, M. Bataneant, M. Serban, M. Gafencu, O. C.Ciocarlie, J. Puiu;

Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, p.93, 2007.


Background: Vascular anomalies are localized errors of vascular development. Vascular tumors include: hemangioma, kaposiform hemangioendothelioma (KH) and tufted angioma. Genetic studies led to the identification of a number of genes that cause vascular malformations.
KH is a rare vascular tumor usually presenting at birth or shortly thereafter. The tumor is locally aggressive and produces major complications.
Aim: To present a rare case of severe KH in a 5yo girl, diagnosed at 7 months, unresponsive to medical treatment. She developed major complications: Kassabach-Merritt-Syndrome and CHF.
Matherial: At 7 months, the infant was admitted with a large vascular lesion involving the left side of the abdomen, left vulva and left leg. A large, rapidly growing, vascular tumor, warm, non pulsatile, red purple, tense, with significant distortion of anatomy was palpable in the abdomen. Clinical examination, Doppler ultrasound, MRI, biopsy and laboratory tests were performed.
Results: KH was the diagnosis. Kassabach-Merritt-Syndrome was the first severe complication, manifested as thrombocytopenia and DIC. Parents refused chemotherapy; hence, treatment was: Prednisone, a-2a-IFN, blood products. Surgery was considered too dangerous given the size and location of the tumor. Despite all efforts, the tumor became giant, invalidating the child and life-threatening.
Conclusions: Kasabach-Merritt-Syndrome and heart failure in unresponsive hemangioendothelioma to medical therapy raise the mortality risk from 30-40% to 50-55%. Gene therapy could be life-saving and despite the rarity of the disease no efforts should be spared to identify the genes involved in KH. In such cases gene therapy could be the only chance for survival.

Cuvinte cheie: leziune vasculara, hemangioendoteliom kaposiform, terapia genica // vascular lesion* kaposiform hemangioendothelioma* gene therapy