The use of sirolimus in the treatment of giant cystic lymphangioma

Abstract

Rationale:Lymphatic malformations (LMs) are rare and benign anomalies resulting from the defective embryological development of the primordial lymphatic structures. Due to their permeative growth throughout all tissue layers, treatment is often challenging. Small asymptomatic lesions can be conservatively managed, while symptomatic lesions require active management. Surgery has been historically considered the treatment of choice, but today less invasive therapeutic options are preferred (sclerotherapy, laser therapy, oral medications). However, there are not uniform therapeutic protocols. Sirolimus is an oral medication that has been reported to be effective in the recent literature. Here we present the case of 4 newborns with giant multicystic lymphangioma treated with oral sirolimus after surgical resection had failed.Patient concerns:At birth the LMs were clinically appreciated as giant masses involving different organs and structures.Diagnoses:All patients had a prenatal diagnosis of giant multicystic lymphangioma confirmed at histological and cytological analysis.Interventions:Patients were treated with oral sirolimus after unsuccessful surgical resection.Outcomes:In all patients, sirolimus determined an overall reduction of the mass and a global involution from the macro- to the microcystic composition. Sirolimus was safe and poor disadvantages had been observed. The main and isolated adverse effect at laboratory analysis was progressive dyslipidemia, with increasing levels of total cholesterol and triglycerides.Lessons:To date, our experience with sirolimus in the management of LMs is favorable. We recommend the use of sirolimus after unsuccessful surgical excision have been tried or when the surgical approach is not feasible. A multidisciplinary follow-up is needed to monitor disease evolution.

Efficacy and safety of sirolimus in the treatment of vascular anomalies: A systematic review

“…One prospective nonrandomized study and 17 retrospective studies described the treatment of lymphatic malformations with oral sirolimus. 14,19,26,32,41,48,56,61,[64][65][66][67][68][69][70][71][72][73] The median age was 12.8 years (0-34 years); 20% of patients were younger than 1 year, and 90% were younger than 18 years. Nonspecified decrease in lesion size was reported in 77.8% patients, partial response in 22.2%, complete response in 3.7%, improvement of pleural effusion in 9.9%, decrease of skin exudate and vesicles in 16.5%, and improvement of pain in 4.9%.…”

Abdominal cystic lymphangioma. A case report

“…These substances can be also applied as primary treatment alone [4,12,13]. Single cases of successful treatment of lymphangiomas using oral drugs, such as propranolol [14] and sirolimus [15], were reported. However, the effectiveness of these drugs has not been fully confirmed yet due to the small number of cases and short follow-ups.…”

Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis

“…Sirolimus has been used in the treatment of cystic hygroma in infants and children who had recurrence after excision. Sirolimus causes reduction and involution of the mass 8 9. We did not try sirolimus in our baby since we did not diagnose GLD and complete surgical excision is considered as the primary treatment of choice for cystic hygroma.…”