Aplastic anemia with thrombopoietin gene mutation successfully treated with romiplostim monotherapy

Background: Eltrombopag and romiplostim are thrombopoietin-receptor agonists (TPO-RA), which are approved globally for the treatment of immune thrombocytopenia. However, thrombopoietin (TPO) is not just a regulator of megakaryocyte expansion but is also a vital cytokine for hematopoietic stem cell maintenance, supporting all cell lines. While the role of eltrombopag has already been established in aplastic anemia (AA) and is recommended in guidelines, evidence regarding romiplostim in AA is gradually emerging. Here, we narrate the successful treatment of AA with romiplostim. Clinical Description: A 6-year-old girl born out of third-degree consanguineous marriage, presented with pancytopenia without hepatosplenomegaly nor lymphadenopathy. Management and Outcome: Bone marrow was hypocellular. Etiological workup for bone marrow failure syndrome was unremarkable, confirming primary AA. She received blood products and intravenous immunoglobulin. Clinical exome sequencing showed homozygous mutation of the TPO gene, following which a trial of romiplostim, a TPO-RA, was given. Her cell lines improved dramatically, so she was continued on romiplostim maintenance therapy. The child soon became transfusion free and is asymptomatic currently after 2½ years, since diagnosis. Conclusion: Romiplostim, a TPO-RA, can be a potential therapeutic option, as monotherapy, in children with AA associated with TPO loss-of-function mutation. The treatment seems to be promising as it is well tolerated and economical.