Overview
Congenital secondary polycythemia is a rare blood condition that is present from birth. In this disease, the body makes too many red blood cells, but unlike primary polycythemia (where the problem starts in the bone marrow itself), secondary polycythemia happens because something outside the bone marrow signals it to overproduce red blood cells. In the congenital form, this is caused by inherited genetic changes that affect how the body senses or responds to oxygen levels. The most common mechanism involves mutations that increase the production of erythropoietin (EPO), a hormone made mainly by the kidneys that tells the bone marrow to make more red blood cells, or mutations that make the body act as though oxygen levels are low even when they are normal. Key symptoms include a ruddy or reddish complexion, headaches, dizziness, fatigue, and an increased risk of blood clots due to thickened blood. Some patients may experience high blood pressure, blurred vision, or itching. The severity can vary widely depending on the specific genetic cause. Treatment typically focuses on reducing the number of red blood cells through periodic blood removal (phlebotomy) to lower the risk of dangerous clots. In some cases, low-dose aspirin may be recommended. Identifying the exact genetic cause is important because it can guide treatment decisions and help predict the disease course. This condition is also sometimes referred to as congenital secondary erythrocytosis.
Also known as:
Key symptoms:
Reddish or ruddy skin color, especially on the faceHeadachesDizziness or lightheadednessFatigue or tirednessBlurred or double visionItching, especially after a warm bathHigh blood pressureBlood clots in veins or arteriesShortness of breathTingling or numbness in hands or feetNosebleedsFeeling of fullness in the headStroke or mini-stroke symptoms in severe cases
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital secondary polycythemia.
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Rare Disease Specialist
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
No travel grants are currently matched to Congenital secondary polycythemia.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic mutation is causing my polycythemia, and how does that affect my treatment plan?,How often will I need phlebotomy, and what is my target hematocrit level?,What are the warning signs of a blood clot that I should watch for?,Should I take low-dose aspirin or any other medication to prevent clots?,Are there any activities, environments, or medications I should avoid?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments being studied for my condition?
Common questions about Congenital secondary polycythemia
What is Congenital secondary polycythemia?
Congenital secondary polycythemia is a rare blood condition that is present from birth. In this disease, the body makes too many red blood cells, but unlike primary polycythemia (where the problem starts in the bone marrow itself), secondary polycythemia happens because something outside the bone marrow signals it to overproduce red blood cells. In the congenital form, this is caused by inherited genetic changes that affect how the body senses or responds to oxygen levels. The most common mechanism involves mutations that increase the production of erythropoietin (EPO), a hormone made mainly b
At what age does Congenital secondary polycythemia typically begin?
Typical onset of Congenital secondary polycythemia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital secondary polycythemia?
16 specialists and care centers treating Congenital secondary polycythemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.