Chronic immune thrombocytopenia (ITP) is less commonly found in the children presenting with ITP. Patients usually present with petechiae, purpura, or active bleeding in the form of epistaxis or hematuria. The main aim of treatment in chronic ITP is to prevent major bleeding and to increase the platelet count. High doses of corticosteroids, intravenous immunoglobulin, rituximab, and eltrombopag, a thrombopoietin receptor agonist (TPO-RA), are medications that can be used. In this report, we present a case of chronic ITP in a 12-year-old child. In addition to features of chronic ITP, he also has vitiligo around his eyes and limbs. During treatment, he was resistant to steroids and did not respond to rituximab or eltrombopag. To understand the cause of his presenting features, we did multiple diagnostic evaluations. The whole-exome sequencing raises the possibility of auto-inflammatory syndrome Behcet-like (AISBL), which is a rare genetic disorder and not frequently reported in the available medical literature. AISBL is caused by mutations in the TNFAIP3 gene. According to our best knowledge, this is the first Saudi child diagnosed with chronic ITP and vitiligo with the possibility of AISBL that needs further genetic work-up to confirm the diagnosis.
Keywords: behcet; citp; tnf aip3 gene; tpo receptor agonist; vitiligo.
Copyright © 2020, Alhebshi et al.