Familial erythrocytosis

Hematology

Clinicals - History

Fact Explanation
Introduction In Familial erythrocytosis there is absolute increased in red blood cell production despite of absent tissue hypoxia but associated with various low levels of erythropoietin hormone. This is a rare condition with autosomal dominant or autosomal recessive inheritance. Introduction
In Familial erythrocytosis there is absolute increased in red blood cell production despite of absent tissue hypoxia but associated with various low levels of erythropoietin hormone. This is a rare condition with autosomal dominant or autosomal recessive inheritance.
Lethargy, confusion, headache, dizziness These symptoms are due to central nervous system disturbances with hyperviscosity causing poor perfusion. Lethargy, confusion, headache, dizziness
These symptoms are due to central nervous system disturbances with hyperviscosity causing poor perfusion.
Pruritus after warm bath Warm bath can stimulate the histamine release from basophils and mast cells. With the disease there is increased levels of basophils and mast cells. This leads to excessive release of histamine causing itchyness. Pruritus after warm bath
Warm bath can stimulate the histamine release from basophils and mast cells. With the disease there is increased levels of basophils and mast cells. This leads to excessive release of histamine causing itchyness.
Burning sensation in fingers and toes With the hyperviscosity perfusion becomes poor causing ischemic pains. Burning sensation in fingers and toes
With the hyperviscosity perfusion becomes poor causing ischemic pains.
Features suggestive of arterial thrombosis With the hyperviscosity there is a increased risk of thrombotic complications. Arterial thrombotic complications can damage various systems giving specific features of hypoperfusion.
Eg; In cardiac complications, patient will present with chest pain, difficulty in bresthing, dizziness, sweating and other features of myocardial infarction/ angina.

If thrombotic complications occur in central nervous system, patient will have seizures, paralysis and paresthesia like features.

If thrombosis occur in a artery supplying to limbs, patients will present with acute limb ischemia( sever pain at rest, coldness, limited movements, numbness) following features of occlusive arterial disease like pain starting few minutes after initiating walking, pain relief with resting and reproduce with walking in a same distance.

Thrombosis in pulmonary arteries will give features like chest pain, difficulty in breathing, cough and wheezing.
Features suggestive of arterial thrombosis
With the hyperviscosity there is a increased risk of thrombotic complications. Arterial thrombotic complications can damage various systems giving specific features of hypoperfusion.
Eg; In cardiac complications, patient will present with chest pain, difficulty in bresthing, dizziness, sweating and other features of myocardial infarction/ angina.

If thrombotic complications occur in central nervous system, patient will have seizures, paralysis and paresthesia like features.

If thrombosis occur in a artery supplying to limbs, patients will present with acute limb ischemia( sever pain at rest, coldness, limited movements, numbness) following features of occlusive arterial disease like pain starting few minutes after initiating walking, pain relief with resting and reproduce with walking in a same distance.

Thrombosis in pulmonary arteries will give features like chest pain, difficulty in breathing, cough and wheezing.
Features suggestive of venous thrombosis With the excess red cell mass there will be venous thrombosis as well.
eg;
In deep vein thrombosis patient will present with acute onset severe pain, swelling, redness and warmth of the limb.

Hepatic venous thrombosis will present with abdominal distension(ascites), features of liver insufficiency like nausea, vomiting, loss of appetite, yellowish discoloration of eyes, generalized swelling and gastrointestinal bleeding( either as haemoptysis/ malena).

In cerebral venous thrombosis patient will be confused, drowsy, may develop seizures due to cerebral venous disease.

Visual disturbances can occur due to retinopathy.This visual problems is call 'slow- flow retinopathy'.
Features suggestive of venous thrombosis
With the excess red cell mass there will be venous thrombosis as well.
eg;
In deep vein thrombosis patient will present with acute onset severe pain, swelling, redness and warmth of the limb.

Hepatic venous thrombosis will present with abdominal distension(ascites), features of liver insufficiency like nausea, vomiting, loss of appetite, yellowish discoloration of eyes, generalized swelling and gastrointestinal bleeding( either as haemoptysis/ malena).

In cerebral venous thrombosis patient will be confused, drowsy, may develop seizures due to cerebral venous disease.

Visual disturbances can occur due to retinopathy.This visual problems is call 'slow- flow retinopathy'.
Severe continuous small joint pain Patients will present with symptoms of gout as a result of increased uric acid production with excessive red cell turnover. Gout mainly affects big toe. Severe continuous small joint pain
Patients will present with symptoms of gout as a result of increased uric acid production with excessive red cell turnover. Gout mainly affects big toe.
Recent symptoms or past history of acute breathlessness, pleuritic type chest pain, haemoptysis, dizziness and syncopy As patients are at risk of pulmonary embolism with increased risk of venous thrombo embolism following polycythemia theses presentations are very important. Recent symptoms or past history of acute breathlessness, pleuritic type chest pain, haemoptysis, dizziness and syncopy
As patients are at risk of pulmonary embolism with increased risk of venous thrombo embolism following polycythemia theses presentations are very important.
Confirm the absence of predisposing causes for secondary polycythemia In the history excluding the presence of causes for tissue hypoxia or inappropriate increase in erythropoietin production is importent
eg;
Past history of congenital heart disease like tetralogy of fallot and transposition of great arteries as there is poor oxygenation of the blood causing poor tissue perfusion which ultimately leads to increased eruthropoietin production to compensate the hypoxaemic situation.

Feature suggestive of chronic lung disease( eg: Chronic Obstructive Pulmonary Disease) can cause progressive ariway obstruction and poor alveolar ventialtion dyspite of good alveolar perfusion. So oygenation of deoxygenated blood in lungs will be poor leading to increased erythropoietin production to compensate the need causing increased red blood cell production.

Recidence in high altitudes induce hypoxic condition( because air coming to alveoli will contain less oxygen causing poor exchange with blood) to a certain extend causing increase production of erythropoietin to increase the red cell mass which can catch more oxygen and this leads to polycythemia.

History of sleep apnoea (snoring loudly in sleep, day time sleepiness, poor sleep, morning headache and reduced performance) leads to intermittent closure/ collapse of the pharyngeal air way causing apnoic episodes during sleep. This conditionn leads to periodic alveolar hypoventilation. So periodic hypoxia in long term can induce erythropoietin production causing polycythemia.

History of disease conditions affecting kidneys like renal tumours, hydronephrosis and renal cysts there is associated secondary polycythemia by inappropriate increase in erythropoietin production.

History of hepatocellular carcinoma, as there is an increased erythropoietin in blood as hepatocellular carcinomal cells leads to erythropoietin production. This stimulates excessive increase production of red blood cells from bone marrows causing polycythemia.
Confirm the absence of predisposing causes for secondary polycythemia
In the history excluding the presence of causes for tissue hypoxia or inappropriate increase in erythropoietin production is importent
eg;
Past history of congenital heart disease like tetralogy of fallot and transposition of great arteries as there is poor oxygenation of the blood causing poor tissue perfusion which ultimately leads to increased eruthropoietin production to compensate the hypoxaemic situation.

Feature suggestive of chronic lung disease( eg: Chronic Obstructive Pulmonary Disease) can cause progressive ariway obstruction and poor alveolar ventialtion dyspite of good alveolar perfusion. So oygenation of deoxygenated blood in lungs will be poor leading to increased erythropoietin production to compensate the need causing increased red blood cell production.

Recidence in high altitudes induce hypoxic condition( because air coming to alveoli will contain less oxygen causing poor exchange with blood) to a certain extend causing increase production of erythropoietin to increase the red cell mass which can catch more oxygen and this leads to polycythemia.

History of sleep apnoea (snoring loudly in sleep, day time sleepiness, poor sleep, morning headache and reduced performance) leads to intermittent closure/ collapse of the pharyngeal air way causing apnoic episodes during sleep. This conditionn leads to periodic alveolar hypoventilation. So periodic hypoxia in long term can induce erythropoietin production causing polycythemia.

History of disease conditions affecting kidneys like renal tumours, hydronephrosis and renal cysts there is associated secondary polycythemia by inappropriate increase in erythropoietin production.

History of hepatocellular carcinoma, as there is an increased erythropoietin in blood as hepatocellular carcinomal cells leads to erythropoietin production. This stimulates excessive increase production of red blood cells from bone marrows causing polycythemia.
Family history of or features suggestive of polycythemia There will be a positive family history as this is a inherited condition with mutations in various genes (eg; EPOR, VHL, EGLN1, or EPAS1 gene). Family history of or features suggestive of polycythemia
There will be a positive family history as this is a inherited condition with mutations in various genes (eg; EPOR, VHL, EGLN1, or EPAS1 gene).

Clinicals - Examination

Fact Explanation
Plethoric appearance Patient will have a plethoric appearance with cyanosis( due to incresed de oxygenated haemoglobin level with excess red blood cell production), congenital suffusion and retinal vein engorgement. This appearance will be prominent in face, palms, nailbeds, mucosa and conjunctiva. Plethoric appearance
Patient will have a plethoric appearance with cyanosis( due to incresed de oxygenated haemoglobin level with excess red blood cell production), congenital suffusion and retinal vein engorgement. This appearance will be prominent in face, palms, nailbeds, mucosa and conjunctiva.
Signs of arterial thrombotic complications With the hyperviscosity there is a increased risk of thrombotic complications. Arterial thrombotic complications can damage various systems giving specific features of hypoperfusion.
Eg; In cardiac complications, patient will in a pain, dyspnoic following myocardial infarctions.
If thrombotic complications occur in central nervous system, patient will develop seizures and/ or signs of motor/ sensory impairment and crenial nerve palsy.
If thrombosis occur in a artery supplying to limbs, patients will in a severe pain, limb will be discoloured, cold and movements will be limited.
In retinal thrombosis, fundoscopic examination will reveals the pale, oedematous optic dick.
Signs of arterial thrombotic complications
With the hyperviscosity there is a increased risk of thrombotic complications. Arterial thrombotic complications can damage various systems giving specific features of hypoperfusion.
Eg; In cardiac complications, patient will in a pain, dyspnoic following myocardial infarctions.
If thrombotic complications occur in central nervous system, patient will develop seizures and/ or signs of motor/ sensory impairment and crenial nerve palsy.
If thrombosis occur in a artery supplying to limbs, patients will in a severe pain, limb will be discoloured, cold and movements will be limited.
In retinal thrombosis, fundoscopic examination will reveals the pale, oedematous optic dick.
Signs of venous thrombotic complications In deep vein thrombosis patient will in a severe pain with out moving affected limb, limb will be swollen, reddish and warm. When hepatic venous thrombosis examination will reveals generalized oedema, ascites, Jaundice due to liver insufficiency.
In cerebral venous thrombosis patient will be confuse and drowsy.
Signs of venous thrombotic complications
In deep vein thrombosis patient will in a severe pain with out moving affected limb, limb will be swollen, reddish and warm. When hepatic venous thrombosis examination will reveals generalized oedema, ascites, Jaundice due to liver insufficiency.
In cerebral venous thrombosis patient will be confuse and drowsy.
Look for presence of signs suggestive of secondary polycythemia Patients with Familial erythrocytosis will not have signs of seconary polycythemia mentioned below. So absence of them will guide the diagnosis.
eg:
Measurement of BMI using height and weight as morbid obesity is a cause for this as it leads to obstructive sleep apnea causing alveolar hypoventilation.
Nicotin stains in lips/ fingers and cigarette smell during examination (heavy cigarette smoking is a predisposing factor for secondary polycythemia.
In a COPD patient tachypnoea, use of accessory muscles, hyperinflated lungs, reduced costocondral distance, reduced lung expansion, hyperresonant percussion note will be present.
In cyanotic heart diseases patients will present with cyanosis, finger clubbing and other disease specific features. eg; Tetralogy of fallot- ejection systolic murmur in pulmonary area, hypercyanotic spells
In abdominal examination hepatomegaly with features of chronic liver failure( jaundice, ascites, oedema) will present in a hepatocellular carcinoma.
Ballatable mass will present in a hydronephrosis, renal cell carcinoma and cystic kidney.
Look for presence of signs suggestive of secondary polycythemia
Patients with Familial erythrocytosis will not have signs of seconary polycythemia mentioned below. So absence of them will guide the diagnosis.
eg:
Measurement of BMI using height and weight as morbid obesity is a cause for this as it leads to obstructive sleep apnea causing alveolar hypoventilation.
Nicotin stains in lips/ fingers and cigarette smell during examination (heavy cigarette smoking is a predisposing factor for secondary polycythemia.
In a COPD patient tachypnoea, use of accessory muscles, hyperinflated lungs, reduced costocondral distance, reduced lung expansion, hyperresonant percussion note will be present.
In cyanotic heart diseases patients will present with cyanosis, finger clubbing and other disease specific features. eg; Tetralogy of fallot- ejection systolic murmur in pulmonary area, hypercyanotic spells
In abdominal examination hepatomegaly with features of chronic liver failure( jaundice, ascites, oedema) will present in a hepatocellular carcinoma.
Ballatable mass will present in a hydronephrosis, renal cell carcinoma and cystic kidney.
Features of dehydration Dry skin and mucus membranes, reduced urine out put will give evidence of dehydration which is an cause for relative polycythemia. Features of dehydration
Dry skin and mucus membranes, reduced urine out put will give evidence of dehydration which is an cause for relative polycythemia.
Abdominal examination In this familial polycythemia usually splenomegaly is absent. Abdominal examination
In this familial polycythemia usually splenomegaly is absent.

Investigations - Diagnosis

Fact Explanation
Full blood count Due to excessive production of red blood cells, red blood cell count, haemoglobin, haematocrit, MCV, MCHC and pack cell volume will be high. WBC count and platelet counts will be normal. Full blood count
Due to excessive production of red blood cells, red blood cell count, haemoglobin, haematocrit, MCV, MCHC and pack cell volume will be high. WBC count and platelet counts will be normal.
Total red cell mass and plasma volume measurement This is useful in differentiating absolute polycythemia from relative polycythemia. In absolute polycythemia there will be increase in total red cell mass and normal plasma volume. In relative polycythemia there will be normal Total red cell mass with reduced plasma volume. Total red cell mass and plasma volume measurement
This is useful in differentiating absolute polycythemia from relative polycythemia. In absolute polycythemia there will be increase in total red cell mass and normal plasma volume. In relative polycythemia there will be normal Total red cell mass with reduced plasma volume.
Peripheral blood film This will show incresed red cell mass with normochromic and normocytic red blood cells. Peripheral blood film
This will show incresed red cell mass with normochromic and normocytic red blood cells.
Serum erythropoietin level This will be low in Familial erythrocytosis due to the genetic defect of erythropoietin signalling pathway. Also this test will give evidence to differenciate this from secondary polycythemia where there will be excess production of the hormone. Serum erythropoietin level
This will be low in Familial erythrocytosis due to the genetic defect of erythropoietin signalling pathway. Also this test will give evidence to differenciate this from secondary polycythemia where there will be excess production of the hormone.
Assessing hemoglobin-oxygen dissociation curve using oxygen saturation and levels of 2,3-diphosphoglycerate The hemoglobin-oxygen dissociation curve will be normal as this is not associated with any hypoxia. Assessing hemoglobin-oxygen dissociation curve using oxygen saturation and levels of 2,3-diphosphoglycerate
The hemoglobin-oxygen dissociation curve will be normal as this is not associated with any hypoxia.
Bone marrow biopsy This will shows hyper cellular bone marrows with prominent megakaryocytes. Bone marrow biopsy
This will shows hyper cellular bone marrows with prominent megakaryocytes.
Tests to exclude any causative factors cuusing secondary polycythemia These tests will be useful in excluding primary causes for the erythrocytosis

eg:
Ultrasound scan of the abdomen, CT scan/ MRI scan because hepatocellular carcinoma, hydronephrosis, renal cell carcinoma, cystic kidney and some brain tumours( eg; cerebellar haemangioblastoma) can cause secondary polycythemia, these imaging studies will helpful in identifying them and associated other complications.

Chest X ray as chronic lung diseases can cause this condition chest X ray will also helpful. Eg: In COPD patients Chest X ray will show hyperinflated lungs, flat diaphragms and tubular heart.

ECG, Echocardiogram As cyanotic congenital heart diseases can lead to polycythemia this is useful in identifying the patients cardiac abnormality and current status.

Arterial oxygen saturation measure by Arterial Blood Gas analysis as this is useful in identifying hypoxia as a primary cause.
Tests to exclude any causative factors cuusing secondary polycythemia
These tests will be useful in excluding primary causes for the erythrocytosis

eg:
Ultrasound scan of the abdomen, CT scan/ MRI scan because hepatocellular carcinoma, hydronephrosis, renal cell carcinoma, cystic kidney and some brain tumours( eg; cerebellar haemangioblastoma) can cause secondary polycythemia, these imaging studies will helpful in identifying them and associated other complications.

Chest X ray as chronic lung diseases can cause this condition chest X ray will also helpful. Eg: In COPD patients Chest X ray will show hyperinflated lungs, flat diaphragms and tubular heart.

ECG, Echocardiogram As cyanotic congenital heart diseases can lead to polycythemia this is useful in identifying the patients cardiac abnormality and current status.

Arterial oxygen saturation measure by Arterial Blood Gas analysis as this is useful in identifying hypoxia as a primary cause.
Karyotyping In familial erythrocytosis mutations in various genes can be identified (eg; EPOR, VHL, EGLN1, or EPAS1 gene), Presence of cytoplasmic tyrosine kinase Janus-associated kinase 2(JAK2) mutation in haemopoietic cells will helpful in differentiating Polycythemia Rubra Vera from familial erythrocytosis . Karyotyping
In familial erythrocytosis mutations in various genes can be identified (eg; EPOR, VHL, EGLN1, or EPAS1 gene), Presence of cytoplasmic tyrosine kinase Janus-associated kinase 2(JAK2) mutation in haemopoietic cells will helpful in differentiating Polycythemia Rubra Vera from familial erythrocytosis .

Investigations - Management

Fact Explanation
Hand-held Doppler This is a simple non invasive test use to assess the presence occlusive arterial disease.As familial erythrocytosis can cause arterial thrombi formation,this is useful in measurement of ankle-brachial pressure index (ABPI). Hand-held Doppler
This is a simple non invasive test use to assess the presence occlusive arterial disease.As familial erythrocytosis can cause arterial thrombi formation,this is useful in measurement of ankle-brachial pressure index (ABPI).
Serum uric acid Patients will develop gout as a result of increased uric acid production with excessive red cell turnover. Serum uric acid
Patients will develop gout as a result of increased uric acid production with excessive red cell turnover.
D dimer level D dimer level will be elevated in deep vein thrombosis and this is useful in assessing the risk of pulmonary embolism D dimer level
D dimer level will be elevated in deep vein thrombosis and this is useful in assessing the risk of pulmonary embolism
Doppler studies If patient present with peripheral thrombotic complications causing limb ischemia doppler studies will useful in assessing the current condition and in deciding the further treatment. Doppler studies
If patient present with peripheral thrombotic complications causing limb ischemia doppler studies will useful in assessing the current condition and in deciding the further treatment.
ECG/Echocardiogram With arterial thrombi formation patient can develop myocardial infarction/ angina. So theses test will useful in assessing the cardiac function ECG/Echocardiogram
With arterial thrombi formation patient can develop myocardial infarction/ angina. So theses test will useful in assessing the cardiac function
CT/ MRI If thrombotic complications occur in central nervous system, patient will brain ischemia causing transient ischemic attacks/ strokes. CT/ MRI
If thrombotic complications occur in central nervous system, patient will brain ischemia causing transient ischemic attacks/ strokes.
Angiogram/ CT angiogram/ MR angiogram If thrombosis occur in a artery supplying to limbs, patients will develop acute limb ischemia. So these tests are useful in looking at vascular tree abnormalities. Angiogram/ CT angiogram/ MR angiogram
If thrombosis occur in a artery supplying to limbs, patients will develop acute limb ischemia. So these tests are useful in looking at vascular tree abnormalities.
Chest X ray Thrombosis in pulmonary arteries will be another complication in erythrocytosis. Chest X ray will give rough idea about the pulmonary involvement. Chest X ray
Thrombosis in pulmonary arteries will be another complication in erythrocytosis. Chest X ray will give rough idea about the pulmonary involvement.
Ultrasound scan of the abdomen Hepatic venous thrombosis will present with venous congestion and ascites. Ultrasound scan of the abdomen
Hepatic venous thrombosis will present with venous congestion and ascites.
CT pulmonary angiography This is the first line imaging modality in diagnosing pulmonary embolism. CT pulmonary angiography
This is the first line imaging modality in diagnosing pulmonary embolism.
Full blood count This is useful in assessing the patients polycythemic condition. The haematocrit should be monitored and has to be maintained below 0.45. Full blood count
This is useful in assessing the patients polycythemic condition. The haematocrit should be monitored and has to be maintained below 0.45.
Coagulation profile (PT/INR and APTT) Basic coagulation tests such as PT/INR and APTT has to be carried out to see any procoagulabilty which could be detected by them.
.
Coagulation profile (PT/INR and APTT)
Basic coagulation tests such as PT/INR and APTT has to be carried out to see any procoagulabilty which could be detected by them.
.
Thormbophilic screening studies (Hams test, Factor V laden, Protein C, Protein S) Thrombophilic screening studies such as Hams test, Factor V laden, Protein C, Protein S has to be done to detect other concurrent prothrombotic diseases. Thormbophilic screening studies (Hams test, Factor V laden, Protein C, Protein S)
Thrombophilic screening studies such as Hams test, Factor V laden, Protein C, Protein S has to be done to detect other concurrent prothrombotic diseases.
ANA, ds DNA Possibility of connective tissue disorder has to excluded ANA, ds DNA
Possibility of connective tissue disorder has to excluded
Genetic screening with karyotyping This is a rare condition with autosomal dominant or autosomal recessive inheritance.Familial erythrocytosis is inherited with mutations in various genes (eg; EPOR, VHL, EGLN1, or EPAS1 gene). this is useful in classification of the disease as well. Genetic screening with karyotyping
This is a rare condition with autosomal dominant or autosomal recessive inheritance.Familial erythrocytosis is inherited with mutations in various genes (eg; EPOR, VHL, EGLN1, or EPAS1 gene). this is useful in classification of the disease as well.

Management - Supportive

Fact Explanation
Health education Patient should be educated regarding the disease, primary cause for the disease, symptoms associated with, possible complications, available treatment options and prognosis. This should include the genetic counseling as well. Health education
Patient should be educated regarding the disease, primary cause for the disease, symptoms associated with, possible complications, available treatment options and prognosis. This should include the genetic counseling as well.
DVT prophylaxis Can be non pharmacological and pharmacology modalities. Non pharmacological moralities are good hydration, adequate mobilization of the patient, limb physiotherapy and thrombo embolic detergenic stocking. The main pharmacological propylaxis is low molecular weight heparin in high risk patients if no contraindication (eg: Sub cutaneous enoxaparin 0.5mg/kg/day). DVT prophylaxis
Can be non pharmacological and pharmacology modalities. Non pharmacological moralities are good hydration, adequate mobilization of the patient, limb physiotherapy and thrombo embolic detergenic stocking. The main pharmacological propylaxis is low molecular weight heparin in high risk patients if no contraindication (eg: Sub cutaneous enoxaparin 0.5mg/kg/day).
Management in Emergency Situation The possible emergencies in patients with polycythaemia are pulmonary embolism, massive stoke, myocardial infarction, cerebral venous thrombosis, mesenteric infarction. In these circumstances ABC management is essentially life saving. Airway has to be secured : foreign body has to be removed, maneuvers such as jaw thrust, chin lift and head tilt has to done. Oral air way, laryngeal mask air way and intubation would be beneficial if not corrected by simple maneuvers. Breathing has to be assessed and respiratory support should be given with ambu ventilation or via a ventilator. Circulation has to be assessed and fluid resuscitation with inotrope support has to started as indicated. Management in Emergency Situation
The possible emergencies in patients with polycythaemia are pulmonary embolism, massive stoke, myocardial infarction, cerebral venous thrombosis, mesenteric infarction. In these circumstances ABC management is essentially life saving. Airway has to be secured : foreign body has to be removed, maneuvers such as jaw thrust, chin lift and head tilt has to done. Oral air way, laryngeal mask air way and intubation would be beneficial if not corrected by simple maneuvers. Breathing has to be assessed and respiratory support should be given with ambu ventilation or via a ventilator. Circulation has to be assessed and fluid resuscitation with inotrope support has to started as indicated.
Hydration patient should be well hydrated as dehydration can worsen the polycythemic cindition. Hydration
patient should be well hydrated as dehydration can worsen the polycythemic cindition.

Management - Specific

Fact Explanation
Venesection(phlebotomy) Venesection is aimed to reduce haematocrit value less then 0.45 to reduce the risk of thrombosis.This is useful in patients with symptoms like dizziness, dyspnoea or angina, with increased haematocrit level more the 0.56 and in patients with past history of thrombotic complications.
With each phebotomy iron is removing from the body (neary 200-250g of iron is being removed with 500ml of blood). So with the frequent venesection patient can go in to iron deficiency anaemia with alteration in iron recycling. So close monitoring of iron status of these patients and iron supplementation when necessary will be helpful in managing these patients.
With iron deficiency there will be a reduction in erythropoiesis ultimately resulting the reduction in blood viscosity and reducing the need of repeated phlebotomies.

Other than iron deficiency there can be puncture site infections, thrombophlebitis and accidental injury to surrounding structures (eg: accidental arterial puncture) like complications. Taking aseptic precautions, done by a trained person and changing the site of puncture will be helpful in minimizing/ preventing the above complications.
Venesection(phlebotomy)
Venesection is aimed to reduce haematocrit value less then 0.45 to reduce the risk of thrombosis.This is useful in patients with symptoms like dizziness, dyspnoea or angina, with increased haematocrit level more the 0.56 and in patients with past history of thrombotic complications.
With each phebotomy iron is removing from the body (neary 200-250g of iron is being removed with 500ml of blood). So with the frequent venesection patient can go in to iron deficiency anaemia with alteration in iron recycling. So close monitoring of iron status of these patients and iron supplementation when necessary will be helpful in managing these patients.
With iron deficiency there will be a reduction in erythropoiesis ultimately resulting the reduction in blood viscosity and reducing the need of repeated phlebotomies.

Other than iron deficiency there can be puncture site infections, thrombophlebitis and accidental injury to surrounding structures (eg: accidental arterial puncture) like complications. Taking aseptic precautions, done by a trained person and changing the site of puncture will be helpful in minimizing/ preventing the above complications.

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