Treatment of Secondary Polycythemia in Congenital Erythrocytosis with Family History of Erythrocytosis
This protocol addresses secondary polycythemia presenting in the context of congenital erythrocytosis, particularly in patients who have a family history of erythrocytosis. This subgroup often requires a tailored approach that differs from standard management.
Clinical Scenario
Congenital erythrocytosis arises from germ-line defects and is typically diagnosed in children or young adults. A family history of erythrocytosis is a key identifying feature of this population. Patients in this scenario may be symptomatic or asymptomatic, but the presence of affected family members — especially those who have experienced a thrombotic episode — is clinically significant in guiding management decisions.
Treatment Goals
The primary clinical goal is to reduce haematocrit to a defined target — without reducing it to the normal range. The protocol specifies an explicit haematocrit threshold that guides the intensity and endpoint of intervention.
Treatment Approach (Summary Only)
References
DOI: 10.1111/bjh.15647
- Germ-line defects can result in a congenital erythrocytosis, which is usually diagnosed in children or young adults, often in those with a family history of erythrocytosis.
- Low-dose aspirin is of benefit in myeloproliferative neoplasms in the prevention of thromboembolic events and, by extrapolation, may be of benefit in congenital erythrocytosis.
- Consider low-dose aspirin.
- Consider venesection, particularly if symptoms for which raised Hct might be contributory or if previous thrombotic episode or in an asymptomatic individual in whom a family member with the same genetic lesion has had thrombotic episode (particularly with high oxygen affinity haemoglobins).
- An Hct target of 0.52 is suggested (do not attempt to reduce Hct to the normal range).