Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome

Abstract

Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins. BCS was diagnosed after excluding other causes of chronic liver disease. Mandatory prothrombotic workup revealed underlying PV.Partial recanalisation of hepatic veins occurred following anticoagulation therapy and PV was well controlled by pegylated interferon and hydroxycarbamide until she developed nephrotic syndrome, likely secondary to pegylated interferon. Therefore, treatment was modified to ruxolitinib, a novel-JAK-2 inhibitor; the therapy has been effective for almost 20 months with a good response and has no side effects.

Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera

“…The incidence of Budd-Chiari syndrome was also noted to be higher in children than adults. 6 Notably, the only other in-depth case description of a child treated for PV with ruxolitinib was reported by Coskun et al, 7 and detailed the case of a 26-month-old child who was diagnosed with primary PV after presentation with Budd-Chiari syndrome.…”

Polycythemia vera in a 2‐year‐old child with a JAK2 exon 12 deletion

“…The development of a pegylated form proved to be more tolerable, with less immunogenicity, longer half-life, and improved stability. 2425 22,26,27 Our patient, at 15-month follow up, has demonstrated resolution of symptoms, reduced phlebotomy requirements, and minimal side effects with PEG-IFNα-2a therapy. This is an unusual case of a rare disease, and we feel discussion of this child's course is of value to the pediatric hematology/oncology community.…”

“…However, as more prospective data is gathered, several novel therapeutic agents are emerging that may reduce the need for HSCT. 22 Interferon-alpha has been used in PV for over 30 years, demonstrating both hematologic and molecular responses, however, compliance has been compromised due to both cost and significant side effect profile.…”

Essential Thrombocythemia in Children and Adolescents

“…In children, there exist some experiences in different conditions such as post-transplant graft versus host disease [ 104 ], and dose-finding studies have been carried out in pediatric neoplasms [ 105 ]. One infant with JAK2 -positive polycythemia and Budd–Chiari syndrome was treated with success [ 106 ].…”