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(D75.0) Familial erythrocytosis
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470 059 in individuals diagnosis familial erythrocytosis confirmed
9 064 deaths with diagnosis familial erythrocytosis
2% mortality rate associated with the disease familial erythrocytosis
Diagnosis familial erythrocytosis is diagnosed Men are 9.72% more likely than Women
257 882
Men receive the diagnosis familial erythrocytosis
5 068 (2.0 %)Died from this diagnosis.
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Women receive the diagnosis familial erythrocytosis
3 996 (1.9 %)Died from this diagnosis.
Risk Group for the Disease familial erythrocytosis - Men aged 60-64 and Women aged 75-79
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 95+
In Women diagnosis is most often set at age 0-94
Disease Features familial erythrocytosis
Absence or low individual and public risk
Familial erythrocytosis - what does this mean
Familial erythrocytosis is an inherited disorder characterized by an increase in red blood cells in the bloodstream, resulting in an abnormally high level of hemoglobin and hematocrit. it is caused by mutations in the epor gene, which is responsible for regulating the production of red blood cells.
What happens during the disease - familial erythrocytosis
Familial erythrocytosis is a genetic disorder caused by mutations in the epor gene which encodes the erythropoietin receptor (epor). this gene mutation leads to increased red blood cell production due to increased sensitivity to erythropoietin, a hormone that stimulates red blood cell production. the increased red blood cell production leads to an increase in the amount of hemoglobin and hematocrit in the blood, resulting in erythrocytosis.
Clinical Pattern
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How does a doctor diagnose
- Complete Blood Count (CBC)
- Blood Smear
- Bone Marrow Biopsy
- Hemoglobin Electrophoresis
- Hemoglobin A2 Measurement
- Iron Studies
- Genetic Testing
- Ultrasound of Abdomen
- CT Scan of Abdomen
Treatment and Medical Assistance
Main goal of the treatment: Reduce the number of red blood cells and the amount of hemoglobin in the blood.
- Regular blood tests to monitor hemoglobin and red blood cell levels.
- Prescribe drugs such as hydroxyurea to reduce the number of red blood cells.
- Prescribe erythropoietin to stimulate the production of red blood cells.
- Encourage lifestyle changes such as avoiding smoking, alcohol, and other drugs.
- Encourage regular exercise and a healthy diet.
- Prescribe medications to reduce the risk of blood clots.
- Refer to a hematologist for further evaluation and treatment.
13 Days of Hospitalization Required
44 Hours Required for Outpatient Treatment
Familial erythrocytosis - Prevention
Familial erythrocytosis can be prevented by avoiding exposure to environmental toxins, maintaining a healthy lifestyle with regular exercise and a balanced diet, avoiding smoking, and avoiding alcohol consumption. regular check-ups and blood tests should also be done to monitor for any changes in red blood cell levels.