JAK2 mutation-positive polycythaemia vera associated with IgA vasculitis and nephrotic syndrome: a case report

Mod Rheumatol Case Rep. 2020 Jul;4(2):289-295. doi: 10.1080/24725625.2020.1728061. Epub 2020 Feb 13.

Abstract

We report a case of polycythaemia vera (PV) associated with IgA vasculitis. A 45-year-old man was admitted for evaluation of abdominal pain and palpable purpura. IgA vasculitis was diagnosed, and oral prednisolone therapy (30 mg/day) was initiated. On day 6, the patient developed left hemiparesis, and magnetic resonance imaging revealed acute cerebral infarction. Bone marrow biopsy results and the identification of a Janus kinase 2 (JAK2) mutation led to the diagnosis of PV. Despite steroid therapy, urine protein levels increased to 15 g/g・Cre. Renal biopsy demonstrated mild mesangial proliferation with IgA deposits, but immunosuppressive therapy was partially effective. This case suggests that PV can be a complication of IgA vasculitis and that preventive measures for thrombosis should be taken in such cases.

Keywords: IgA vasculitis; Janus kinase 2 (JAK2); myeloproliferative neoplasms; nephrotic syndrome; polycythaemia vera.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Bone Marrow / pathology
  • Disease Management
  • Disease Susceptibility
  • Humans
  • Immunoglobulin A / immunology*
  • Immunosuppressive Agents / administration & dosage
  • Immunosuppressive Agents / therapeutic use
  • Janus Kinase 2 / genetics*
  • Male
  • Mutation*
  • Nephrotic Syndrome / diagnosis*
  • Nephrotic Syndrome / drug therapy
  • Nephrotic Syndrome / etiology*
  • Polycythemia Vera / complications*
  • Polycythemia Vera / drug therapy
  • Polycythemia Vera / genetics*
  • Vasculitis / drug therapy
  • Vasculitis / etiology*

Substances

  • Immunoglobulin A
  • Immunosuppressive Agents
  • JAK2 protein, human
  • Janus Kinase 2