Autosomal recessive benign erythrocytosis is a rare inherited blood disease. [1] It means the body makes too many red blood cells from birth or early life. [1] “Autosomal recessive” means a child must get one changed (mutated) gene from each parent to have the disease. [2] “Benign erythrocytosis” means the red cells are high for a long time, but it is not a cancer like polycythemia vera. [2]
Most cases are actually a special form called Chuvash polycythemia. [3] It happens when there is a mutation in the VHL gene, which helps the body sense oxygen levels. [3] When this gene does not work properly, the body thinks there is low oxygen all the time. [3] This makes the kidneys release more erythropoietin (EPO), a hormone that tells the bone marrow to make more red blood cells. [4]
Because of the extra red blood cells, the blood becomes thicker than normal. [5] Thick blood flows more slowly and can form clots more easily. [5] People with this disease can have headaches, dizziness, shortness of breath, and sometimes serious problems like blood clots or bleeding in the brain. [6] Even though the word “benign” is used, it can still cause serious health problems if not monitored. [6]
This condition is lifelong and usually found in families or certain regions, like the Chuvash region in Russia or the island of Ischia in Italy. [7] Many patients are diagnosed after a routine blood test shows high hemoglobin and hematocrit levels. [7] With good follow-up care and treatment of complications, many people can live for many years. [8]
Other names
Autosomal recessive benign erythrocytosis is known by several other names in the medical literature. [1] These names all describe the same or very closely related condition: [1]
Chuvash polycythemia
Chuvash erythrocytosis
Chuvash erythromatosis
Chuvash type polycythemia
Familial erythrocytosis 2 (ECYT2)
Erythrocytosis, familial, type 2
Von Hippel–Lindau–dependent polycythemia
These names may appear in genetics or hematology papers, but they all point to a VHL-related, autosomal recessive, congenital erythrocytosis. [2][3]
Types
Doctors sometimes divide autosomal recessive benign erythrocytosis into simple types based on how it looks or on the exact gene changes. [1] The basic medical disease code (familial erythrocytosis 2 / ECYT2) is the same, but patients can show different patterns. [1][2]
Classic Chuvash type – Patients with the common VHL R200W mutation (598C>T) first found in the Chuvash region of Russia. [2] These patients often have high red blood cells, low or normal blood pressure, varicose veins, and a higher risk of blood clots and bleeding. [2][3]
Non-Chuvash regional clusters – Families with the same or similar VHL mutations found in other parts of the world (for example, on the island of Ischia in Italy). [3] The clinical picture is similar but the family history and region are different. [3]
Mild / asymptomatic type – Some people have high red blood cells but almost no symptoms. [4] They are found only on routine blood tests and may never have severe complications if they are carefully followed. [4]
More symptomatic type – Other patients have many problems such as headaches, dizziness, varicose veins, pulmonary hypertension, or strokes. [5] They often need closer monitoring and treatment to prevent clots and bleeding. [5]
Causes
Here, “causes” means the main genetic reason plus the related factors that make this disease appear or become worse.
VHL gene mutation (main cause)
The primary cause is a mutation in the VHL gene, most often the R200W (598C>T) change. [1] This gene helps control a protein called hypoxia-inducible factor (HIF), which tells the body how to react to oxygen levels. [1] When VHL is mutated in both copies, HIF is not broken down properly, and the body behaves as if it is always in low oxygen, driving extra red blood cell production. [1][2] [1]Autosomal recessive inheritance
The disease happens when a person inherits one mutated VHL gene from each parent. [2] Parents usually do not have the disease because they have only one mutated copy (they are “carriers”). [2] When both parents are carriers, each child has a 25% chance of being affected. [2] [2]Founder effect in certain regions
In the Chuvash region of Russia and in some other locations, the same VHL mutation has been passed down for many generations. [3] This “founder effect” makes the disease more common in these areas compared with the rest of the world. [3] [3]Consanguineous marriage (related parents)
When parents are related by blood (for example, cousins), both may carry the same rare VHL change. [4] This increases the chance that a child will receive the mutated gene from both parents and develop the disease. [4] [4]Defective hypoxia-sensing pathway
VHL normally tags HIF proteins for destruction when oxygen is normal. [5] If VHL does not work, HIF builds up, and cells think they are in low oxygen even when oxygen is normal. [5] This mis-sensing of oxygen is a key cause of the constant drive to make more red cells. [5] [5]Increased erythropoietin (EPO) production
Because HIF levels stay high, the kidneys produce more EPO. [6] EPO is the main hormone that tells the bone marrow to make red blood cells. [6] Constantly high EPO leads to lifelong erythrocytosis. [6] [6]Over-active bone marrow red cell production
High EPO stimulates bone marrow stem cells to make many red cell precursors. [7] Over time, this results in a stable but abnormally high red cell mass. [7] This over-activity is secondary to the genetic defect, not a cancerous change. [7] [7]Low tissue oxygen delivery despite normal air oxygen
Even though oxygen in the air and blood is normal, the abnormal signaling makes the body act as if tissues are starved of oxygen. [8] This mismatch in oxygen sensing versus reality is a functional cause of ongoing red cell production. [8] [8]Altered blood vessel signaling
The same HIF pathway affects blood vessel growth and function. [9] Patients show increased levels of growth factors like VEGF, which can change vessel structure and tone and may promote venous problems and clots. [9] These vascular changes contribute to complications of the disease. [9] [9]Varicose veins and venous stasis
Thick blood and abnormal vein walls can cause varicose veins and slow blood flow in the legs. [10] Slow flow promotes pooling and increases the chance of clot formation, which then feeds back as a cause of many symptoms. [10] [10]Pulmonary hypertension
Some patients develop high pressure in the blood vessels of the lungs. [11] This may be due to both vascular changes and thick blood. [11] Pulmonary hypertension contributes to shortness of breath and heart strain. [11] [11]Secondary changes in iron metabolism
Repeated blood drawing (phlebotomy) or chronic erythrocytosis can disturb iron balance. [12] Low iron can limit red cell production but also cause symptoms such as fatigue and restless legs, complicating the picture. [12] [12]Environmental hypoxia (worsening factor)
Living at high altitude or having lung disease does not cause the genetic defect but can worsen erythrocytosis. [13] The already abnormal system reacts even more strongly to real low oxygen, further increasing red cell mass. [13] [13]Smoking (worsening factor)
Smoking increases carbon monoxide in the blood and lowers effective oxygen delivery. [14] In a person with this disease, the body may respond with even more red cell production, worsening thickness of the blood. [14] [14]Coexisting high-affinity hemoglobin variants
Rarely, a person may have both VHL-related erythrocytosis and a high-affinity hemoglobin variant that holds onto oxygen too tightly. [15] This further reduces oxygen delivery to tissues and drives more EPO release and red cell production. [15] [15]Other genetic modifiers of HIF pathway
Variants in other oxygen-sensing genes (like EGLN1 or EPAS1) may modify severity in some families. [16] They do not cause classic autosomal recessive benign erythrocytosis alone, but they can change how serious the VHL mutation appears. [16] [16]Age-related vascular changes
As people age, arteries and veins naturally stiffen and narrow. [17] When combined with thick blood, this age-related change increases the risk of clots, strokes, and heart attacks. [17] [17]Lack of proper medical follow-up
If high hemoglobin and hematocrit are not recognized and monitored, complications like thrombosis or bleeding are more likely. [18] Poor control of secondary risk factors (such as high blood pressure or smoking) also contributes to bad outcomes. [18] [18]Inappropriate treatment (for example, over-phlebotomy)
Too frequent or aggressive phlebotomy to lower hematocrit can lead to iron deficiency and may trigger more EPO production. [19] This can cause a cycle of treatment and rebound erythrocytosis, making control difficult. [19] [19]Uncontrolled blood pressure and other cardiovascular risks
Even though many patients have lower systemic blood pressure, some may still develop hypertension or other cardiovascular risk factors. [20] When these are not managed, together with thick blood they increase the chance of heart and brain complications. [20] [20]
Symptoms
Not every person has every symptom, and some people may have none for many years. But the following are common in autosomal recessive benign erythrocytosis / Chuvash polycythemia.
Headache
Headaches are very common because thick blood flows more slowly through the small blood vessels in the brain. [1] This can cause pressure, heaviness, or pounding pain, often worse in the morning or after lying flat. [1] [1]Dizziness and vertigo
Patients often feel light-headed, unsteady, or as if the room is spinning (vertigo). [2] This again comes from sluggish blood flow and reduced smooth oxygen delivery to the brain. [2] [2]Fatigue and weakness
Even though red blood cells are high, patients may feel very tired. [3] The body is working against thick blood and abnormal vessel tone, and other factors like iron imbalance can add to tiredness and muscle weakness. [3] [3]Shortness of breath
Some people notice trouble breathing on exertion or even at rest. [4] This may be due to pulmonary hypertension, heart strain, or poor oxygen delivery because of abnormal blood flow. [4] [4]Chest pain or discomfort
Thick blood can stress the heart and coronary arteries. [5] Patients may feel chest tightness or pain, especially during exercise, which may signal reduced blood flow to the heart muscle. [5] [5]Ruddy or flushed skin (plethora)
The face, hands, and sometimes the chest can look very red or “flushed.” [6] This is called plethora and comes from increased red cells and blood flow in the skin. [6] [6]Varicose veins and leg discomfort
Many patients have bulging, twisted veins, especially in the legs. [7] These varicose veins may cause aching, heaviness, or swelling and show that the venous system is under strain. [7] [7]Bleeding episodes (nosebleeds, easy bruising)
Some people bleed more easily, with frequent nosebleeds or bruises. [8] The combination of high red cells, altered platelets, and fragile vessels can disturb normal clotting balance. [8] [8]Blood clots in veins (deep vein thrombosis)
A serious symptom is clot formation in leg or pelvic veins, causing pain, swelling, or redness. [9] If part of the clot breaks loose and travels to the lungs (pulmonary embolism), it can be life-threatening. [9] [9]Stroke or mini-stroke (TIA)
Thick blood and abnormal vessels increase the risk of clots in brain arteries. [10] Patients may develop weakness, trouble speaking, facial droop, or sudden loss of vision due to strokes or transient ischemic attacks. [10] [10]Leg pain on walking (claudication)
Some patients have pain in the calves or feet when walking that gets better with rest. [11] This happens when narrowed or clogged arteries cannot handle the thick blood flow during exercise. [11] [11]Short episodes of vision changes
People may see blurred vision, dark spots, or “flashes” for short periods. [12] This is likely due to transient reduction in blood flow to the eyes or brain. [12] [12]Difficulty concentrating or “brain fog”
Chronic abnormal blood flow and oxygen delivery can make it hard to think clearly. [13] Patients may report poor focus, slow thinking, or memory problems, especially when their hematocrit is very high. [13] [13]Shortness of breath when lying flat or at night
Heart and lung strain can cause breathing problems that are worse when lying down. [14] Patients may need extra pillows or wake up gasping, which can be a sign of pulmonary hypertension or heart involvement. [14] [14]Symptoms from hemangiomas and other vascular lesions
Some patients develop benign vascular growths (hemangiomas), especially in the spine or liver. [15] These can cause back pain, neurologic symptoms, or pressure effects depending on their size and location. [15] [15]
Diagnostic tests
Doctors use a mix of physical examination, simple bedside tests, laboratory and pathology studies, electrodiagnostic tools, and imaging to diagnose autosomal recessive benign erythrocytosis and to rule out other causes of high red blood cells. [1]
Physical examination tests
General appearance and skin color examination
The doctor looks at the face, hands, and body for redness (plethora), cyanosis (blue color from low oxygen), or pallor. [2] They also check for bruises, nosebleeds, and signs of chronic illness. [2] This simple step gives an early clue that the red cells may be very high. [2] [1]Vital signs (blood pressure, pulse, breathing rate, oxygen saturation)
Blood pressure is measured because some patients have unusually low systemic pressure, while others may have hypertension or pulmonary hypertension signs. [3] Pulse and breathing rate show how hard the heart and lungs are working. [3] A fingertip oxygen saturation reading helps rule out lung or heart causes of erythrocytosis. [3] [2]Heart and lung examination with stethoscope
The doctor listens for abnormal heart sounds, murmurs, or extra sounds that suggest heart strain or pulmonary hypertension. [4] They also listen to the lungs for crackles, wheezes, or other signs of lung disease that could cause secondary erythrocytosis. [4] [3]Abdominal and spleen examination
The abdomen is felt for an enlarged spleen or liver. [5] While classic Chuvash polycythemia is not mainly a tumor syndrome, the spleen may enlarge due to increased blood cell turnover or congestion. [5] Tenderness or masses would prompt further imaging. [5] [4]
Manual tests (bedside maneuvers)
Capillary refill test
The doctor presses on a fingernail or skin until it turns pale, then releases and counts how long it takes to turn pink again. [6] Slow refill time can suggest poor peripheral blood flow due to thick blood or vascular disease. [6] [5]Peripheral pulse palpation
Pulses in the wrists, ankles, and feet are felt by hand. [7] Weak, absent, or irregular pulses may indicate arterial narrowing, clots, or heart rhythm problems that sometimes accompany long-standing erythrocytosis. [7] [6]Simple walking or step test
The patient may be asked to walk in the hallway or climb a few steps while the doctor watches for breathlessness, chest pain, or leg pain. [8] This simple functional test shows how the heart, lungs, and blood flow respond to mild stress. [8] [7]Bedside neurologic examination
The doctor checks strength, reflexes, coordination, speech, and vision. [9] Any focal weakness, slurred speech, or visual field loss may point to past small strokes or ongoing reduced blood flow to the brain. [9] [8]
Laboratory and pathological tests
Complete blood count (CBC)
This is the key initial test. [10] It measures red blood cell count, hemoglobin, hematocrit, white blood cells, and platelets. [10] In autosomal recessive benign erythrocytosis, hemoglobin and hematocrit are high, while white cells and platelets can be normal or low-normal, which helps distinguish it from polycythemia vera. [10] [9]Red cell indices and blood smear
Mean corpuscular volume (MCV) and other red cell indices are checked, and a smear is examined under the microscope. [11] The shape and size of red cells, and the absence of abnormal white cells or blasts, support a non-cancerous erythrocytosis. [11] [10]Serum erythropoietin (EPO) level
In this disease, EPO is usually high or inappropriately normal for the level of hemoglobin. [12] High EPO helps point toward a secondary or congenital oxygen-sensing problem, instead of a primary bone marrow cancer. [12] [11]Arterial blood gas and p50 (oxygen dissociation) test
An arterial blood gas measures oxygen and carbon dioxide in arterial blood. [13] The p50 test shows how tightly hemoglobin holds oxygen. [13] In pure VHL-related disease, p50 may be normal, but this test is important to rule out high-affinity hemoglobin or 2,3-BPG problems as other causes of congenital erythrocytosis. [13] [12]Iron studies (serum iron, ferritin, transferrin saturation)
These tests check iron stores in the body. [14] Many patients have normal iron at first, but long-term phlebotomy or chronic erythrocytosis can lead to low iron, which can change symptoms and blood counts. [14] [13]Coagulation profile (PT, aPTT, fibrinogen, D-dimer)
Clotting tests look for bleeding or clotting disorders that may coexist or develop secondary to thick blood and vascular problems. [15] Abnormal results help guide treatment when there are thromboses or bleeding episodes. [15] [14]VHL gene sequencing (molecular genetic test)
This is the confirmatory test for autosomal recessive benign erythrocytosis. [16] DNA from blood is tested for mutations in the VHL gene, particularly the R200W or other disease-linked variants. [16] Finding two pathogenic mutations (one from each parent) confirms the diagnosis. [16] [15]
Electrodiagnostic tests
Electrocardiogram (ECG)
An ECG records the electrical activity of the heart. [17] It can show strain on the right side of the heart from pulmonary hypertension, signs of previous heart attacks, or rhythm problems, all of which can be complications of chronic erythrocytosis. [17] [16]Holter monitor or ambulatory ECG recording
In some patients, a 24-hour or longer heart rhythm recording is used. [18] This test helps detect intermittent arrhythmias that may cause palpitations, dizziness, or fainting and may be worsened by thick blood and vascular changes. [18] [17]
Imaging tests
Echocardiogram (heart ultrasound)
An echocardiogram uses sound waves to look at heart structure and function. [19] It can estimate pulmonary artery pressure, check heart muscle function, and detect any clots or valve problems, which are important in patients with long-standing erythrocytosis and suspected pulmonary hypertension. [19] [18]Doppler ultrasound of leg veins
This imaging test looks for deep vein thrombosis (DVT) in the legs or pelvis. [20] It is done when there is leg pain, swelling, or redness; in this disease, it is important because thick blood and varicose veins increase clot risk. [20] [19]Brain CT or MRI scan
When patients show stroke-like symptoms, sudden headache, weakness, or seizures, a brain CT or MRI is used. [21] These scans look for bleeding or ischemic strokes related to clots or fragile blood vessels. [21] Detecting such complications early helps guide urgent treatment and long-term prevention. [21] [20]
Non-pharmacological (non-drug) treatments
Important note: Treatment must be personalized by a hematologist. The non-drug measures below are general options doctors may use together with medical care. Do not change anything without your doctor.
Regular specialist follow-up
Regular visits with a hematologist (blood specialist) are the main therapy. The doctor watches your hemoglobin, hematocrit, and iron levels, checks for symptoms like headaches or dizziness, and looks for early signs of clotting.[] Early detection allows safer timing of other treatments such as phlebotomy or blood-thinning medicines.
Therapeutic phlebotomy (venesection)
Phlebotomy means removing a small amount of blood (for example 300–500 mL) through a vein. In hereditary erythrocytosis, it can be used to lower hematocrit and make the blood less thick, especially in patients with symptoms or a history of clots.[] It is usually done in a hospital or clinic, and the schedule is based on how fast your hematocrit rises.
Careful hydration
Drinking enough water is a simple but powerful therapy. When you are well hydrated, the blood is less concentrated, and flow improves.[] Doctors often advise people with erythrocytosis to carry water, drink regularly in hot weather, and avoid long periods without fluids, unless they have kidney or heart problems that limit fluid intake.
Avoiding smoking and vaping
Smoking adds carbon monoxide and reduces oxygen in the blood, which can drive the body to make even more red blood cells.[] It also directly damages blood vessels and increases clot risk. Stopping smoking and vaping is one of the strongest non-drug ways to reduce complications in any kind of erythrocytosis.
Avoiding unnecessary high altitude exposure
High altitudes have lower oxygen, which triggers more EPO release and extra red blood cell production.[] People with hereditary erythrocytosis are often advised to avoid living or staying long-term at very high altitudes, and to talk with their doctor before mountain trips or long flights.
Moderate, regular physical activity
Gentle to moderate exercise (like walking, cycling, or swimming) helps blood circulation, improves heart and lung health, and lowers clot risk factors such as obesity and high blood pressure.[] Exercise should be tailored: avoid very heavy lifting or extreme sports that could cause dehydration or injury unless your doctor approves.
Weight management
Extra body weight increases pressure on the heart and blood vessels and is linked with high blood pressure, diabetes, and sleep apnea, all of which can worsen erythrocytosis and clot risk.[] A gradual, supervised plan for weight loss using diet and activity often improves overall risk.
Blood pressure control without drugs when possible
High blood pressure is a major clot risk. Lifestyle steps such as reducing salt intake, staying active, and managing stress can lower blood pressure.[] If these are not enough, a doctor may add medicine, but the non-drug measures remain important.
Treatment of sleep apnea and breathing problems
Poor nighttime breathing lowers oxygen and can stimulate extra red blood cell production.[] Sleep studies, weight loss, and devices like CPAP (breathing masks) may be recommended. Fixing sleep apnea can reduce secondary causes of erythrocytosis and improve quality of life.
Avoiding anabolic steroids and unnecessary testosterone
Anabolic steroids and high-dose testosterone can cause or worsen erythrocytosis and increase clot risk.[] People with hereditary erythrocytosis should avoid these drugs unless they are clearly needed and prescribed by a specialist who knows their blood condition.
Careful planning of long travel
Long flights or car trips increase clot risk because you sit still for many hours. Doctors often advise walking every 1–2 hours, doing calf exercises in your seat, drinking water, and sometimes wearing compression stockings on long journeys.[] In high-risk patients, extra protective steps may be suggested.
Heart-healthy diet
A diet rich in fruits, vegetables, whole grains, and healthy fats (like olive oil and nuts) supports blood vessel health and lowers cholesterol and blood pressure.[] It does not directly lower red blood cell counts but reduces many other risk factors that add to the danger of clots.
Limiting alcohol
Heavy alcohol use can damage the liver, change blood clotting, and cause dehydration.[] People with erythrocytosis are often advised to limit alcohol to small amounts or avoid it, especially if they are taking medicines such as aspirin or anticoagulants that already affect clotting.
Infection prevention and vaccination
Serious infections can trigger inflammation, dehydration, and immobilization, all of which may increase clot risk. Staying up to date with vaccines (for example, flu and pneumonia vaccines when appropriate) and good hand hygiene reduces infection episodes.[] Vaccination choices should always be made with your doctor.
Iron balance supervision
Frequent phlebotomy can lower iron too much and cause iron deficiency, which may lead to small, pale red blood cells and tiredness.[] Doctors monitor iron stores and may adjust phlebotomy frequency or diet. You should not start or stop iron tablets without medical advice.
Education and genetic counseling
Understanding the disease helps patients and families make safer decisions about lifestyle, pregnancy, sports, and work. Genetic counseling explains inheritance, test options for relatives, and family planning choices for future pregnancies.[]
Pregnancy planning and high-risk obstetric care
Pregnancy naturally increases clot risk and blood volume. Women with hereditary erythrocytosis benefit from pre-pregnancy counseling and follow-up in a high-risk obstetric clinic.[] Doctors may adjust phlebotomy or low-dose aspirin and monitor closely for complications.
Stress management and good sleep
Chronic stress and poor sleep can raise blood pressure and heart rate, and may worsen headaches and dizziness in erythrocytosis.[] Relaxation techniques, mindfulness, and regular sleep routines are simple, non-drug ways to support overall health.
Personal emergency plan
Patients are often advised to know warning signs of clots (sudden chest pain, shortness of breath, one-sided weakness, or leg swelling) and when to call emergency services.[] Carrying a medical card that lists the diagnosis and medications can also help in emergencies.
Participation in registries or clinical studies
Because autosomal recessive benign erythrocytosis is rare, joining registries or research projects, when available, helps doctors build better evidence for care. Patients may receive more detailed monitoring and expert advice.[]
Drug treatments
Very important safety point: There is no medicine that is approved only for autosomal recessive benign erythrocytosis. Most patients are managed mainly with phlebotomy and lifestyle steps. Some drugs used for related conditions (like polycythemia vera) or for clot prevention may be considered on a case-by-case basis by a hematologist.[] The descriptions below summarize evidence and FDA labeling for similar diseases. They are not personal treatment advice or a complete dosing guide.
Low-dose aspirin
Low-dose aspirin (often 75–100 mg once daily) is used to reduce the risk of blood clots in many patients with polycythemia vera and other high-red-cell conditions.[] It works by making platelets less sticky, so they are less likely to form dangerous clots. The main side effect is stomach irritation and bleeding risk, so it should only be used under medical supervision.
Hydroxyurea (HYDREA / DROXIA / SIKLOS / XROMI – off-label)
Hydroxyurea is an oral cytotoxic drug approved for some cancers and sickle cell disease.[] It slows down bone marrow cell division and can lower blood counts. In polycythemia vera, it is used to reduce high red cell counts in high-risk patients. In benign hereditary erythrocytosis, it is rarely used and only in special situations because it can cause bone-marrow suppression, infection risk, and possibly skin cancer with long-term use.
Ruxolitinib (JAKAFI – off-label in this condition)
Ruxolitinib is an oral JAK1/JAK2 inhibitor approved for myelofibrosis and polycythemia vera that is resistant or intolerant to hydroxyurea.[] It reduces the activity of the JAK-STAT signaling pathway and can lower red cell mass and spleen size in PV. It is not approved for benign hereditary erythrocytosis and would only be considered by specialists in very unusual, severe cases because of risks like low platelets, low red cells, infections, and non-melanoma skin cancer.
Anticoagulants (warfarin, DOACs such as apixaban or rivaroxaban)
When a patient with erythrocytosis develops a blood clot in the veins (deep vein thrombosis or pulmonary embolism), standard blood-thinning medicines like warfarin or newer oral anticoagulants (DOACs) are used to treat and prevent further clots.[] These drugs do not lower red blood cells. They work by reducing clotting factor activity. Main risks are bleeding and drug interactions, so they must be carefully monitored.
Low-molecular-weight heparin (for acute clot treatment)
In hospital, or during high-risk periods like surgery or pregnancy, doctors may give low-molecular-weight heparin injections (such as enoxaparin) to quickly thin the blood and prevent or treat clots.[] It acts by enhancing antithrombin and blocking key clotting factors. Side effects include bleeding and, rarely, low platelets.
Blood pressure–lowering medicines (for risk control)
If lifestyle measures are not enough, drugs like ACE inhibitors, angiotensin receptor blockers, or calcium-channel blockers can be used to control high blood pressure.[] These medicines do not treat erythrocytosis directly but reduce strain on the heart and vessels, lowering the chance of stroke or heart attack.
Cholesterol-lowering drugs (statins)
Statins such as atorvastatin or simvastatin lower LDL (“bad”) cholesterol and stabilize blood vessel walls.[] In a person with erythrocytosis, controlling cholesterol is important because thick blood plus damaged arteries is particularly dangerous. Side effects can include muscle aches and rare liver problems, so liver tests are usually checked.
Diabetes medicines (like metformin) when needed
If a patient also has type 2 diabetes, good glucose control with diet and medicines such as metformin reduces vascular damage and clot risk.[] These medicines do not change red blood cell counts, but they lower long-term damage to blood vessels and organs.
Proton pump inhibitors (for stomach protection when on aspirin)
In people who need aspirin but have a history of stomach ulcers or bleeding, doctors may add a proton pump inhibitor (PPI) such as omeprazole to protect the stomach lining.[] This does not affect erythrocytosis itself, but it lowers the chance of serious stomach bleeding.
Pain relievers chosen carefully
For headaches or joint pains, doctors often prefer paracetamol (acetaminophen) rather than high-dose NSAIDs, especially when the patient is on aspirin or anticoagulants, to reduce bleeding risk.[] Even “simple” painkillers should be discussed with a doctor in this condition.
Because strong cytoreductive drugs like hydroxyurea and ruxolitinib carry important risks and are not approved specifically for autosomal recessive benign erythrocytosis, many patients will never need them. The core drug choice in most cases, if any, is low-dose aspirin plus treatment of clot-risk factors.[]
Dietary molecular supplements
There are no supplements proven to “cure” hereditary erythrocytosis or directly lower red cell counts. The options below focus on general blood vessel and heart health. Always ask your doctor before starting any supplement, especially if you take aspirin or anticoagulants.
Omega-3 fatty acids (fish oil or algae oil)
Omega-3s can gently reduce blood triglycerides and may make platelets a little less sticky, helping overall heart and vessel health.[] Typical doses in studies are 1–2 g of combined EPA/DHA per day, but dosing must be individualized, especially if you are on blood thinners because of bleeding risk.Folic acid (with medical advice)
Folic acid helps red blood cell formation. In people with frequent phlebotomies or borderline folate status, doctors sometimes advise a low supplement dose to keep cells healthy.[] It should not be used to drive higher red cell counts but to prevent deficiency; dosing is usually small (for example 0.4–1 mg/day), only under medical care.Vitamin B12 (if deficient)
Some patients may have low vitamin B12 from diet or stomach problems. Correcting B12 deficiency supports normal red cell and nerve function.[] Doses vary widely (from 250 µg oral to monthly injections) and must be guided by blood tests.Vitamin D
Vitamin D supports bone and immune health. Deficiency is common worldwide and is linked with many chronic diseases.[] Correcting deficiency (often 800–2000 IU/day, depending on local guidelines and blood levels) may improve general health, though it does not change red blood cell counts directly.
Magnesium
Magnesium is involved in blood pressure control and muscle and nerve function. A balanced intake from diet or small supplements (for example 200–400 mg/day) can support vascular health.[] Too much magnesium can cause diarrhea, and people with kidney disease must be careful.
Coenzyme Q10
CoQ10 is an antioxidant that may support heart function and energy metabolism. Some patients with cardiovascular risks take 100–200 mg/day, but evidence is moderate and it does not treat erythrocytosis directly.[] It can interact with certain medicines, so medical advice is needed.
Curcumin (from turmeric, with care)
Curcumin has anti-inflammatory and antioxidant properties and may slightly affect platelet function.[] Because of possible bleeding effects, it must be used carefully, especially with aspirin or anticoagulants. Doses vary widely in studies; your doctor or pharmacist should guide you.
Garlic extract
Garlic is traditionally used for heart health and may have mild antiplatelet and cholesterol-lowering effects.[] However, it can increase bleeding risk at high doses or when combined with blood-thinning drugs. Any use should be discussed with your health care provider.
Green tea extract (moderate amounts)
Green tea contains antioxidants called catechins that may support vascular health and modestly affect cholesterol.[] It should be used in moderate amounts, because high doses of concentrated extracts have sometimes been linked with liver problems.
Probiotics
A healthy gut microbiome may help improve metabolic health and inflammation, which indirectly supports blood vessels.[] Probiotics from yogurt, fermented foods, or supplements can be part of a healthy lifestyle, but they are not a direct treatment for erythrocytosis.
Immune-booster, regenerative, and stem-cell-related drugs
At present, there are no standard “immunity booster,” “regenerative,” or “stem cell” drugs used to treat autosomal recessive benign erythrocytosis. Most patients have normal immune systems and do not need special immune drugs.[] Bone marrow transplantation and gene therapy are used for some severe blood cancers and inherited bone marrow failure conditions, but not routinely for benign familial erythrocytosis, because the risks are high compared with expected benefit.
Some experimental research looks at ways to change the oxygen-sensing pathways (like HIF signaling) or EPO signaling, but these are early research areas and not approved therapies for this condition.[] Any advertisement of “stem cell injections,” “regenerative drips,” or similar for this disease should be viewed with great caution and discussed with a trusted hematologist.
Surgical and procedure-based treatments
There is no surgery that directly “removes” autosomal recessive benign erythrocytosis. Procedures focus on managing complications.
Therapeutic phlebotomy (repeated) – As described above, this vein procedure is the main intervention to lower hematocrit when needed.[]
Catheter-directed clot removal (thrombectomy or thrombolysis) – If a serious clot forms in a limb or lung, interventional radiology procedures may be used to dissolve or remove it, alongside anticoagulant drugs.[]
Surgical thrombectomy or bypass surgery – Rarely, if an artery is blocked and at risk of limb loss or stroke, vascular surgeons may operate to clear the clot or bypass the blockage.[]
Procedures for complications of high pressure (for example, coronary angioplasty) – If high blood pressure and thick blood contribute to heart disease, cardiologists may do procedures like stent placement following standard heart-disease guidelines.[]
Management of bleeding (endoscopy, surgery) – Because some patients will take aspirin or anticoagulants, they may occasionally need endoscopic treatment of bleeding ulcers or surgical repair of bleeding sites, following usual protocols.[]
Prevention and lifestyle
Do not smoke or vape.
Keep a healthy body weight.
Stay well hydrated, especially in hot weather or during illness.
Keep blood pressure, cholesterol, and blood sugar in a healthy range.
Exercise regularly with moderate intensity.
Avoid unnecessary high-altitude stays or seek medical advice before such trips.
Avoid anabolic steroids and unsupervised testosterone use.
Plan long travels with breaks, walking, and leg exercises.
See your hematologist as often as recommended and keep copies of your test results.
Ask about low-dose aspirin or other protective treatments if you have additional clot-risk factors.[]
When to see a doctor
You should see a doctor regularly if you have this diagnosis, even when you feel well, to monitor blood counts and risk factors.[]
Seek urgent or emergency care if you notice:
Sudden chest pain or shortness of breath.
One-sided weakness, drooping of the face, or trouble speaking (possible stroke).
A swollen, painful, red leg or arm (possible deep vein thrombosis).
Sudden severe headache, confusion, or vision loss.
Heavy, uncontrolled bleeding (for example, vomiting blood, black stools, or very heavy nosebleeds).[]
See your doctor soon (within days) if you have:
New or worse headaches or dizziness.
Worsening tiredness or shortness of breath on small efforts.
Many nosebleeds or bruises.
New pregnancy or planning to become pregnant.
Any new medicine, supplement, or planned surgery, so your hematologist can adjust your plan.[]
What to eat and what to avoid
Eat: Plenty of fruits and vegetables every day – they provide fiber and antioxidants that protect blood vessels.
Eat: Whole grains (brown rice, oats, whole-wheat bread) instead of refined grains to stabilize blood sugar.
Eat: Healthy fats such as olive oil, nuts, seeds, and avocados for heart health.[]
Eat: Lean proteins like fish, beans, and skinless poultry.
Eat: Foods rich in potassium and magnesium (bananas, leafy greens, beans) to help with blood pressure.
Avoid / limit: Very salty processed foods (chips, instant noodles, fast food) because they raise blood pressure.
Avoid / limit: Sugary drinks and sweets, which worsen weight and diabetes risk.
Avoid / limit: Heavy alcohol.
Avoid: Extra iron tablets or high-iron supplements unless your doctor tells you to take them, especially if you are having phlebotomies.[]
Be cautious with: Herbal products that claim to “thin the blood” or “boost red blood cells”; many have not been tested in this condition and can interact with your medicines.[]
Frequently asked questions
Is autosomal recessive benign erythrocytosis a type of cancer?
No. It is not a cancer. It is a genetic condition where signaling pathways that control red blood cell production are overactive.[] However, the thickened blood can still be dangerous if not managed.Will I have symptoms all the time?
Many people are symptom-free for years and are diagnosed only because of a blood test.[] When symptoms happen, they often include headaches, dizziness, red skin, tiredness, or shortness of breath.Can this condition cause blood clots?
Yes, some patients with hereditary erythrocytosis develop clots in the veins or arteries, although the exact risk varies by gene and by other factors like smoking or high blood pressure.[]Do all patients need phlebotomy?
No. Some patients are only observed. Phlebotomy is usually used if the hematocrit is very high, if symptoms occur, or if there is a history of clots.[]Is low-dose aspirin always needed?
Not always. Evidence from related conditions like polycythemia vera and EPOR-mutated familial polycythemia suggests that low-dose aspirin plus phlebotomy may reduce clot risk in some patients, but the decision must be personalized.[]Can I play sports?
Many people can do regular exercise and non-contact sports. Very intense or dehydrating activities should be discussed with your doctor, especially if you have had clots or heart problems.[]Can women with this condition have children?
Yes, but pregnancy needs careful planning and close follow-up, because both pregnancy and erythrocytosis increase clot risk.[] A high-risk obstetrician and hematologist should be involved.Will my children have the disease?
In autosomal recessive disease, if both parents carry the faulty gene, each child has a 25% chance to have the disease, 50% chance to be a carrier, and 25% chance to have no mutated gene.[] Genetic counseling can help explain this for your family.Do I need to avoid all vaccines?
No. Most vaccines are safe and useful because they reduce infection risk.[] If you are on immune-affecting drugs like hydroxyurea, your doctor may avoid live vaccines, following standard label warnings.[]Is there a cure?
At present there is no simple cure. Bone marrow transplant or gene therapy is not routinely offered because risks are high and the disease can usually be managed with safer measures.[]How often will I need blood tests?
It depends on your situation. Some patients are checked every few months; others, especially after a clot or during treatment changes, may be checked more often.[]Can diet alone control this condition?
No. Diet can help control blood pressure, weight, and cholesterol, which are important, but it does not remove the extra red blood cells or the genetic cause.[]Should I take iron tablets to “balance” my blood?
Not without clear advice from your hematologist. In this condition, extra iron can sometimes make red cells rise faster, especially if you are having phlebotomies.[]Are internet “stem cell” treatments for this disease real?
At this time, there are no approved stem cell injections or similar “regenerative” drugs for benign hereditary erythrocytosis.[] Be very cautious and discuss any such offer with your specialist.What is the most important thing I can do today?
The most important steps are: know your diagnosis, attend regular check-ups, control lifestyle risk factors (no smoking, healthy weight, good hydration), and discuss with your hematologist whether you need phlebotomy, aspirin, or other protective treatments.[],
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 25, 2025.
