Erythrocytosis (Primary Familial and Congenital)
What is Erythrocytosis (Primary Familial and Congenital)?
Primary familial and congenital erythrocytosis is a rare inherited blood condition. It causes your bone marrow to make too many red blood cells. This happens because of genetic mutations you are born with.
These mutations affect how your body senses oxygen levels or how it produces erythropoietin. Erythropoietin is a hormone that tells your bone marrow to make red blood cells. When the system does not work correctly, your body produces extra red blood cells even when it does not need them. This makes your blood thicker than normal.
Unlike other forms of polycythemia, this type is not caused by lifestyle factors or acquired diseases. It runs in families and is present from birth. The condition is usually diagnosed in childhood or young adulthood. Early detection through blood testing helps prevent serious complications.
Symptoms
- Headaches that do not respond to typical pain relievers
- Dizziness or feeling lightheaded
- Blurred vision or visual disturbances
- Reddish or purple skin tone, especially in the face
- Itching after warm baths or showers
- Fatigue and weakness despite adequate rest
- Shortness of breath during normal activities
- Enlarged spleen detected during examination
- Easy bruising or unusual bleeding
- Numbness or tingling in hands and feet
Some people with mild erythrocytosis have no symptoms early on. The condition may only be discovered during routine blood work. Regular testing is important if you have a family history of this condition.
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Causes and risk factors
Primary familial and congenital erythrocytosis is caused by inherited genetic mutations. These mutations affect genes that control oxygen sensing or erythropoietin production. The most common genes involved include EPOR, VHL, EGLN1, and EPAS1. You inherit these mutations from one or both parents, depending on the specific type.
Risk factors include having a parent or sibling with the condition. Living at high altitudes does not cause this genetic form, but it may make symptoms worse. Unlike secondary erythrocytosis, smoking and lung disease do not cause the familial type. Your ethnicity may also play a role, as certain mutations are more common in specific populations. Genetic counseling can help families understand their risk.
How it's diagnosed
Diagnosis starts with a simple blood test that measures hemoglobin levels. Hemoglobin is the protein in red blood cells that carries oxygen. Elevated hemoglobin is the first sign of erythrocytosis. Your doctor will also check your hematocrit, which measures the percentage of red blood cells in your blood.
Rite Aid offers hemoglobin testing as part of our flagship panel, making it easy to screen for this condition. If your hemoglobin is high, your doctor may order additional tests to determine the cause. These include erythropoietin levels, oxygen saturation, and genetic testing. Genetic testing confirms which mutation is causing your condition. A family history of elevated red blood cells strongly suggests the inherited form.
Treatment options
- Phlebotomy or therapeutic blood removal to reduce red blood cell count
- Staying well hydrated to prevent blood from getting too thick
- Low-dose aspirin to reduce risk of blood clots, when recommended by your doctor
- Avoiding smoking and secondhand smoke exposure
- Regular monitoring of hemoglobin levels every 3 to 6 months
- Limiting alcohol intake, which can affect blood cell production
- Exercise programs designed to improve circulation safely
- Genetic counseling for family planning decisions
Concerned about Erythrocytosis (Primary Familial and Congenital)? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Primary erythrocytosis is caused by inherited genetic mutations that directly affect red blood cell production. Secondary erythrocytosis happens when another condition, like lung disease or sleep apnea, causes low oxygen levels. Primary forms are present from birth and run in families. Secondary forms develop later in life due to external factors.
The inheritance pattern depends on which gene is affected. Some types are autosomal dominant, meaning you only need one mutated gene from one parent. Other types are autosomal recessive, requiring mutations from both parents. A genetic counselor can explain your specific inheritance pattern and risk of passing it to children.
There is currently no cure for inherited erythrocytosis because it is caused by permanent genetic mutations. However, the condition can be managed very effectively with regular monitoring and treatment. Most people with proper management live normal, healthy lives. Gene therapy research may offer future treatment options.
If you have diagnosed erythrocytosis, you should check your hemoglobin every 3 to 6 months. Your doctor may recommend more frequent testing if your levels are unstable or if you are starting new treatment. Regular monitoring helps prevent complications from excessively thick blood.
Hemoglobin levels above 16.5 grams per deciliter in women or 18.5 grams per deciliter in men suggest erythrocytosis. However, the exact cutoff can vary based on your age, sex, and altitude. Your doctor will interpret your results based on your individual situation and symptoms.
Phlebotomy for erythrocytosis is similar to donating blood and causes minimal discomfort. Most people tolerate it very well with no side effects. You may feel slightly tired or dizzy immediately after, but this passes quickly. The procedure is very safe when done by trained professionals.
Lifestyle changes alone cannot cure genetic erythrocytosis, but they can help manage symptoms. Staying hydrated keeps blood less thick and reduces clot risk. Avoiding smoking prevents additional stress on your cardiovascular system. Regular exercise improves overall circulation and heart health.
Untreated erythrocytosis increases your risk of blood clots, which can cause stroke or heart attack. Thick blood can also lead to poor circulation in your extremities. You may develop high blood pressure or an enlarged spleen. Regular monitoring and treatment prevent these serious complications.
Yes, blood relatives should consider hemoglobin screening if you have diagnosed familial erythrocytosis. Siblings and children have the highest risk of inheriting the mutation. Early detection allows for monitoring and treatment before complications develop. Genetic counseling can help determine who should be tested.
Most people with well-managed erythrocytosis can exercise safely and should stay physically active. Regular movement helps prevent blood clots and improves circulation. However, you should work with your doctor to determine safe exercise intensity. Avoid extreme endurance activities until your levels are stable.