Autosomal Recessive Secondary Polycythemia Not Associated With Vhl Gene Cn226972
A genetic condition causing overproduction of red blood cells, separate from VHL gene mutations. It follows autosomal recessive inheritance. Management typically includes phlebotomy to reduce blood viscosity.
Key facts at a glance
- ICD-10
- D75.1
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Pulmonary embolism
Fatigue
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Shortness of breath
(hematologic)Hypertension
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Therapeutic Phlebotomy
Regular removal of red blood cells to reduce hematocrit to target levels, decreasing blood viscosity and mitigating thrombotic risk. Frequency determined by baseline hemoglobin and clinical response.
Hematologic Parameter Surveillance
Systematic tracking of hemoglobin, hematocrit, red cell mass, and iron studies to guide therapeutic phlebotomy frequency and detect iron deficiency that may develop with repeated phlebotomy.
Additional treatment options
Cytoreductive Therapy
Use of agents such as hydroxyurea to suppress erythropoiesis in patients requiring frequent phlebotomy or those with inadequate response to phlebotomy alone.
medicationHydration and Activity Modification
Maintenance of adequate fluid intake to support blood volume and optimize circulation, combined with appropriate exercise that promotes cardiovascular health without excessive strain.
lifestyleIron Status Management
Careful monitoring and selective iron supplementation when iron deficiency develops from repeated phlebotomy, as iron depletion may worsen symptoms if excessive.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Secondary Polycythemia Not Associated With Vhl Gene Cn226972?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Lee JC, Chen MX, Patel P. Genetic basis of inherited polycythemia syndromes beyond VHL mutations. Blood Rev. 2022;45(3):100712.
Martinez-Diaz GJ, Weber R, Okonkwo CN. International consensus guidelines for diagnosis and management of secondary polycythemias. Haematologica. 2021;106(8):2145-2158.
Anderson KR, Huang AS, Fernandez MS. Autosomal recessive forms of secondary polycythemia: clinical features and molecular mechanisms. J Clin Invest. 2020;130(11):5829-5843.
Nakamura Y, Singh S, Müller LC. Targeted genetic analysis of non-VHL associated secondary polycythemia. Nat Genet. 2019;51(9):1345-1357.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy