علاج كثرة الحمر الثانوية في كثرة الحمر الچوفاشية مع طفرة متماثلة اللواقح في جين VHL

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