Oral sirolimus in capillary-lymphatic venous malformations and associated syndromes: a case series of 3 patients
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Affiliations: 1. Faculty of Medicine, National and Kapodistrian University of Athens (NKUA), Mikras Asias 75, Athens, 115 27 Greece. 2. Oncology Clinic, Athens Medical Center, Athens, Greece. 3. Clinic for Vascular and Endovascular Surgery, Athens Medical Center, Athens, Greece
Capillary-lymphatic-venous malformations (CLVMs) are congenital vascular anomalies that can present with debilitating manifestations. Sirolimus, previously used as an immunosuppressive and antiproliferative agent, has emerged as a complimentary if not first-line treatment of CLVM.
We present 3 cases of patients with CLVMs, each associated with a different clinical syndrome. We retrospectively reviewed the clinical presentation, diagnostic imaging, and management strategies for 3 adult patients with confirmed CLVMs. In all 3 patients, oral sirolimus was approved as palliation therapy.
The first case is a 53-year-old male patient with blue rubber bleb nevus syndrome (Bean syndrome), presenting with multiple symptomatic body hemangiomata including life-threatening enlarging masses in the cervical and supraclavicular space. The patient has been on oral sirolimus for 3 years with an ongoing shrinking of the masses and a decrease in pain and spontaneous bleeding events. The second case is a 42-year-old patient with lymphangiomata of the pelvis, left lower extremity, and scrotum, presenting with a heavy-feeling left leg, severe sciatica pain, hematuria and bleeding during intercourse. He has been on sirolimus therapy for 2 years and despite no profound imaging shrinkage his symptoms have completely resolved. The third case involves a patient with Klippel-Trenaunay syndrome and an associated above-the-knee amputation of the left leg, along with amputation of the toes on the right leg. The patient presented with lymphorrhea and edema of the left stump. He has been on sirolimus for 3 months with substantial improvement of his symptoms and quality of life. All 3 patients experience minor side effects and will continue the medication indefinitely, with close monitoring.
CLVMs, particularly when associated with complex syndromes pose significant therapeutic challenges. Sirolimus is a novel treatment that appears safe and effective in alleviating symptoms and improving quality of life.
