Secondary polycythemia
ICD-10 D75.1 ICD-11 3A81.2

Treatment of Secondary Polycythemia in Chuvash Polycythaemia with Homozygous VHL Gene Mutation

This protocol addresses Secondary polycythemia in the specific setting of Chuvash polycythaemia — a congenital erythrocytosis caused by a homozygous mutation in the VHL gene.

Clinical Scenario

Patients with Chuvash polycythaemia carry a homozygous VHL gene mutation that drives erythrocytosis. This population faces increased thrombotic complications, making appropriate management of the polycythaemia particularly important.

Treatment Approach — Partial Overview

A JAK2-targeted therapeutic approach is considered in the management of this specific cause of congenital erythrocytosis.

Full regimen, sequencing, and dosing details available in the complete protocol →
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References

  1. In Chuvash polycythaemia, where affected individuals have a homozygous mutation in the VHL gene increased thrombotic complications have been reported.
  2. In Chuvash polycythaemia the VHL protein is a SOCS1-coperative regulator of JAK2 and JAK2-targeted therapy may be of benefit in this disorder.
  3. Recently there have been reports of clinical improvement in patients with Chuvash polycythaemia on ruxolitinib and ruxolitinib may therefore be considered for the management of this specific cause of congenital erythrocytosis.
  4. Ruxolitinib should be considered in Chuvash polycythaemia.

DOI: 10.1111/bjh.15647

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