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Novel treatment (new drug/intervention; established drug/procedure in new situation)
CASE REPORT
Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome
  1. Mehmet Enes Coskun1,2,
  2. Sue Height3,
  3. Anil Dhawan2,
  4. Nedim Hadzic2
  1. 1Department of Pediatrics, Gaziantep Universitesi Tip Fakultesi, Gaziantep, Turkey
  2. 2Pediatric Gastroenterolgy, Hepatololgy and Nutrition, King's College Hospital NHS Foundation Trust, London, UK
  3. 3Paediatric Haematology, King's College Hospital NHS Foundation Trust, London, UK
  1. Correspondence to Dr Mehmet Enes Coskun, mecoskun{at}hotmail.com

Summary

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 JAK V617F 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.

  • haematology (drugs and medicines)
  • liver disease
  • haematology

https://doi.org/10.1136/bcr-2017-220377

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    Footnotes

    • Contributors MEC: acquisition of data, planning the layout and drafting case report (article), also making necessary changes after revisions. SH: primary diagnosis, treatment and follow-up of the patient and revising the draft critically for important intellectual content. AD: primary diagnosis, treatment and follow-up of the patient, also final approval of the report. NH: primary diagnosis, treatment and follow-up of the patient, planning the content and layout of the case report, also revising the draft critically for important intellectual content. NH and SH are the ones responsible for the overall content as guarantors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.