Overview
Autosomal recessive secondary polycythemia not associated with the VHL gene (also known as familial erythrocytosis or familial polycythemia) is a group of rare inherited conditions characterized by an abnormal increase in red blood cell mass (erythrocytosis) that is not caused by mutations in the von Hippel-Lindau (VHL) tumor suppressor gene. Unlike primary polycythemia (polycythemia vera), which arises from intrinsic defects in bone marrow stem cells, secondary polycythemia results from increased erythropoietin (EPO) production or enhanced sensitivity of erythroid progenitors to EPO. In these autosomal recessive forms, mutations in genes involved in the oxygen-sensing pathway — such as EGLN1 (PHD2) or EPAS1 (HIF-2α) — or in genes affecting hemoglobin oxygen affinity can lead to inappropriate stimulation of red blood cell production. The condition primarily affects the hematologic system, leading to elevated hemoglobin and hematocrit levels. Key clinical features include facial plethora (reddish complexion), headaches, dizziness, fatigue, and an increased risk of thromboembolic events such as deep vein thrombosis, pulmonary embolism, and stroke due to increased blood viscosity. Some patients may also experience bleeding complications. The severity of symptoms can vary considerably among affected individuals, even within the same family. Treatment is primarily supportive and aimed at reducing the risk of thrombotic complications. Therapeutic phlebotomy (periodic blood removal) is the mainstay of management to maintain hematocrit levels within a safer range. Low-dose aspirin may be considered to reduce thrombotic risk. In some cases, careful monitoring without active intervention may be appropriate if the erythrocytosis is mild. There is currently no curative therapy, and management focuses on symptom control and prevention of complications. Genetic counseling is recommended for affected families.
Also known as:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive secondary polycythemia not associated with VHL gene.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Common questions about Autosomal recessive secondary polycythemia not associated with VHL gene
What is Autosomal recessive secondary polycythemia not associated with VHL gene?
Autosomal recessive secondary polycythemia not associated with the VHL gene (also known as familial erythrocytosis or familial polycythemia) is a group of rare inherited conditions characterized by an abnormal increase in red blood cell mass (erythrocytosis) that is not caused by mutations in the von Hippel-Lindau (VHL) tumor suppressor gene. Unlike primary polycythemia (polycythemia vera), which arises from intrinsic defects in bone marrow stem cells, secondary polycythemia results from increased erythropoietin (EPO) production or enhanced sensitivity of erythroid progenitors to EPO. In these
How is Autosomal recessive secondary polycythemia not associated with VHL gene inherited?
Autosomal recessive secondary polycythemia not associated with VHL gene follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.