Background: Catastrophic antiphospholipid syndrome (CAPS) is a life-threatening disease which characterized by multi-organ thrombosis and presence of antiphospholipid antibodies. Therapeutic approach reported from the International CAPS Registry were a combination of anticoagulants, glucocorticoids, plasma exchange and/or intravenous immunoglobulins which was able to reduce the mortality rate from 53% to 33%. However, in severe cases, the other treatment such as rituximab, cyclophosphamide, and eculizumab may be required.

Aims: To demonstrate treatments in two pediatric patients with catastrophic antiphospholipid syndrome.

Methods: After inform consent, two CAPS patients were enrolled. The data including clinical information, etiology, DNAs study, and outcome were obtained.

Results: Patient 1 (P1), a 14-year-old girl, presented with extensive cerebral venous sinus thrombosis, intracardiac thrombus, pulmonary embolism (PE), splenic thrombus and extensive deep vein thrombosis (DVT), while Patient 2 (P2), a 5-year-old-girl, presented with massive PE, extensive DVT and acute arterial occlusion. Both had no underlying diseases. Thrombophilia investigation showed heterozygous PROC gene mutation c.565G>T (p.R189W) in both patients. They initially received standard heparin, pulse methylprednisolone, and plasma exchange. During treatment, the intravascular clot progressed, therefore, both required 2 doses of thrombolytic agent, rituximab, and sirolimus. After that, intravascular clot was controlled. At present, at 2.5 and 0.5 years after initial diagnosis respectively, they have been well. There was the resolution of clot by imaging study but was still present. They still receive sirolimus, hydroxychloroquine, and anticoagulant as a maintenance treatment.

Conclusions: The triple therapy with thrombolytic agent, rituximab and sirolimus in refractory CAPS should be considered in uncontrolled patients who had extensive clot despite pulse methylprednisolone, plasma exchange and anticoagulant.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/successfully-treated-pediatric-catastrophic-antiphospholipid-syndrome-with-combination-of-thrombolytic-agent-rituximab-and-sirolimus/