Kaposiform lymphangiomatosis in adult patients– results of sirolimus treatment

Abstract

Kaposiform lymphangiomatosis (KLA) is a generalized lymphatic malformation, presenting mainly in childhood, with a few cases in adults. The clinical presentation can be localized or generalized, involving the lungs, mediastinum, bones, spleen, soft tissues and skin. KLA is characterized by progressive hemorrhagic effusions in the body cavities.

The aim of this study was to present patients with KLA treated with sirolimus.

Material: In a period of 5 years 3 women with KLA, in age range from 21 to 46 years were diagnosed in our Department.

Results: Patients presented chest pain, dyspnea, a pleural effusion, and enlarged mediastinal lymph nodes. Laboratory abnormalities included anemia, hypofibrinogenemia and an elevated D-dimer level. MRI revealed hemorrhagic pleural fluid collections with the presence of methemoglobin, characteristic high-signal spleen lesions, and osteolytic bone lesions. Histological examination of mediastinal samples obtained by thoracoscopy showed irregular thin-walled vascular spaces covered by spindle-shape lymphatic endothelial cells, focally in clusters, which displayed positive immunostaining for CD31, D2-40, and PROX1. Sirolimus was administered in oral dose, allowing to obtain the serum level between 5-10ng/mL. This treatment resulted in a slight improvement with subsequent stabilization of the disease. The increase of the mean hemoglobin (12.1 vs.13.5g/l), and serum fibrinogen (2.1 vs. 2.5g/l) levels, and decrease of the mean D-dimer concentration (7677 vs. 3799ng/ml) were noticed. Patients have been under the observation form 1 to 5 years, and all are under the treatment.

Conclusions: Sirolimus treatment results in slight improvement with subseqent stabilisation of KLA.