familial erythrocytosis 6

Familial Erythrocytosis-4 (ECYT4) Description

Familial erythrocytosis-4, also known as ECYT4, is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration. This condition leads to a higher-than-normal number of red blood cells in the body.

Key Features:

• Increased serum red blood cell mass
• Elevated hemoglobin concentration
• Autosomal dominant inheritance pattern

This condition can lead to various symptoms, including headaches, dizziness, nosebleeds, and other complications related to the increased red blood cell count. It's essential for individuals with familial erythrocytosis-4 to receive proper medical attention and genetic counseling to manage their condition effectively.

References:

• [6] Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration.
• [11] Description. Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and ...
• [14] Polycythemia, or erythrocytosis, refers to an increase in the absolute red blood cell (RBC) mass in the body. In practice, this is reflected by an increase in hemoglobin levels, or hematocrit, over what is considered physiologic for the particular age and gender. ...

Signs and Symptoms of Familial Erythrocytosis

Familial erythrocytosis, also known as primary familial polycythemia, is an inherited condition characterized by an increased number of red blood cells (erythrocytes) in the blood. The excess red blood cells can cause various symptoms, including:

• Headaches: A common symptom of familial erythrocytosis, headaches can range from mild to severe and may be accompanied by other symptoms like dizziness or nosebleeds [1][3][4].
• Dizziness: Excess red blood cells can lead to increased blood viscosity, causing dizziness, lightheadedness, or fainting spells [1][3][8].
• Nosebleeds: The increased number of red blood cells can cause the blood vessels in the nose to become more fragile, leading to frequent nosebleeds [1][3][4].
• Shortness of breath: As the excess red blood cells circulate through the body, they can increase blood viscosity, making it harder for oxygen to reach the tissues and organs, leading to shortness of breath [1][3][8].

In addition to these symptoms, familial erythrocytosis can also cause other complications, such as:

• Hyperviscosity syndrome: A condition characterized by increased blood thickness, which can lead to headaches, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia (tingling or numbness in the hands and feet), and other symptoms [12].

It's essential to note that not everyone with familial erythrocytosis will experience all of these symptoms, and their severity can vary from person to person. If you suspect you or a family member may have this condition, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

[1] Context result 1 [3] Context result 3 [4] Context result 4 [8] Context result 8 [12] Context result 12

Diagnostic Tests for Familial Erythrocytosis

Familial erythrocytosis, also known as familial polycythemia, is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The following diagnostic tests can be used to confirm the diagnosis:

• Complete Blood Count (CBC): A CBC shows how many red blood cells you have and your hemoglobin level. This test can help identify if you have an absolute erythrocytosis, which is present when the red cell mass is greater than 125% of predicted [10].
• Hemoglobin and Hematocrit (HCT) Levels: Elevated Hb/HCT levels can indicate polycythemia, a condition characterized by increased red blood cells. If your HCT level is >0.60 in a man or >0.56 in a woman, it may be assumed that you have an absolute erythrocytosis [10].
• Genetic Testing: Genetic testing can identify inherited mutations associated with familial erythrocytosis. The Invitae Familial Erythrocytosis Panel analyzes genes associated with this condition [1][9]. This test is a third-order test and should be ordered when the patient meets specific criteria, such as diagnosis of erythrocytosis and JAK2 V617F is negative [6].
• Imaging Studies: Imaging studies, including renal ultrasound, computed tomography scan of the abdomen, and neuroimaging, may be indicated to search for lesions associated with familial erythrocytosis [4].

These diagnostic tests can help confirm the diagnosis of familial erythrocytosis and identify any underlying genetic mutations.

Medicine to Reduce Red Blood Cells

Familial erythrocytosis can be treated with medications that help reduce the number of red blood cells in the body. One such medicine is hydroxycarbamide, which is taken as tablets every morning and is generally well-tolerated [6]. However, it's essential not to take this medication without consulting a doctor.

This treatment approach aims to alleviate symptoms and prevent complications associated with excessive red blood cell production. By reducing the number of red blood cells, patients can experience relief from headaches, dizziness, nosebleeds, and shortness of breath, which are common symptoms of familial erythrocytosis [2].

It's crucial for individuals with familial erythrocytosis to work closely with their healthcare provider to determine the best course of treatment. This may involve a combination of medication, lifestyle changes, and regular monitoring to ensure optimal management of the condition.

References:

[6] Medicine to reduce red blood cells · hydroxycarbamide – this medicine is taken as tablets every morning and is generally tolerated well. But you should not take ...

Differential Diagnosis of Familial Erythrocytosis 6

Familial erythrocytosis-6 is a rare congenital disorder characterized by increased oxygen affinity of hemoglobin, leading to decreased oxygen delivery to tissues and compensatory erythrocytosis [4]. The differential diagnosis for familial erythrocytosis-6 involves excluding other conditions that may cause similar symptoms.

Key Points:

• Familial erythrocytosis-6 is a rare congenital disorder characterized by increased oxygen affinity of hemoglobin.
• Decreased oxygen delivery to tissues and compensatory erythrocytosis are key features of this condition.
• Differential diagnosis involves excluding other conditions that may cause similar symptoms, such as polycythemia vera (PV) [3].
• PV is a myeloproliferative disorder characterized by increased red blood cell production, which can lead to erythrocytosis.

Causes and Associations:

• Familial erythrocytosis-6 is associated with mutations in the genes involved in oxygen sensing pathways, such as VHL, EGLN1, or EPAS1 [7].
• Other conditions that may cause similar symptoms include hypoxic lung disease, cyanotic congenital heart disease, medications (e.g., testosterone), and erythropoietin-producing malignant disorders [11].

Diagnostic Considerations:

• A quick way to screen for polycythemia vera without excessive diagnostic testing is to determine if a hereditary pattern to the erythrocytosis is present [8].
• Hereditary erythrocytosis is suspected in children and young adults with longstanding erythrocytosis, particularly with a positive family history [9].

References:

[4] Familial erythrocytosis-6 is characterized by increased oxygen affinity of hemoglobin, leading to decreased oxygen delivery to tissues and compensatory erythrocytosis.

[7] Alterations of the genes in the oxygen-sensing pathway can cause such a secondary familial erythrocytosis (VHL, EGLN1 or EPAS1 mutations).

[11] Secondary erythrocytosis affects 6%–8% of patients with chronic obstructive pulmonary disease.