familial erythrocytosis 8

Familial Erythrocytosis: An Inherited Condition

Familial erythrocytosis, also known as congenital erythrocytosis, is an inherited hematological disorder characterized by a high absolute mass of red blood cells. This condition is present from birth and can be inherited in either an autosomal dominant or recessive fashion.

Key Features:

• Increased serum red blood cell mass
• Elevated hemoglobin concentration
• High absolute mass of red blood cells

This condition is distinct from acquired myeloproliferative disorders, such as polycythemia vera, which also result in increased red blood cell production. However, familial erythrocytosis is a congenital condition that is present from birth and is not caused by an underlying disease or disorder.

References:

• [8] describes familial polycythemia or congenital erythrocytosis as an inherited hematological disorder characterized by a high absolute mass of red blood cells.
• [10] also describes familial erythrocytosis as an inherited condition characterized by an increased number of red blood cells (erythrocytes).
• [13] mentions primary familial and congenital polycythemia (PFCP) which is characterized by isolated erythrocytosis in an individual with a normal-sized spleen and absence of disorders causing secondary erythrocytosis.

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, which may vary from person to person.

Common Symptoms:

• Headaches [8]
• Dizziness [3][4][5][8]
• Nosebleeds [3][4][8]
• Shortness of breath [3][4][8]

Other Possible Symptoms:

• Blurred vision [5]
• Red skin, particularly in the face, hands, and feet [5]
• Itchiness, especially after a warm bath or shower [7]
• Numbness, tingling, burning, or weakness in your hands, feet, arms, or legs [7]

Note: These symptoms may not be present in all individuals with familial erythrocytosis. The severity and frequency of these symptoms can vary depending on the individual.

References: [3] 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 shortness of breath. [4] 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 shortness of breath. [5] Symptoms of erythrocytosis · headaches · blurred vision · red skin, particularly in the face, hands and feet – this may be more difficult to see on black or brown ... [7] Symptoms · Itchiness, especially after a warm bath or shower · Numbness, tingling, burning, or weakness in your hands, feet, arms or legs · A feeling of fullness ... [8] Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also ...

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). To diagnose this condition, several diagnostic tests can be performed.

• 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 abnormal elevation of hemoglobin and/or hematocrit in peripheral blood [10].
• Peripheral Blood Film: This test examines the shape, size, and color of your red blood cells to determine if they are normal or abnormal.
• Renal and Liver Function Tests: These tests assess the function of your kidneys and liver, as these organs play a crucial role in producing erythropoietin, a hormone that stimulates red blood cell production [12].
• Ferritin Level: Ferritin is a protein that stores iron. Measuring ferritin levels can help determine if you have an iron deficiency or overload.
• Erythrocyte Mass Measurement: This test measures the total number of red blood cells in your body to confirm absolute erythrocytosis [14].
• Genetic Testing: Genetic testing, such as sequencing and copy number variant analysis, can identify inherited DNA variants associated with familial erythrocytosis. The Invitae Familial Erythrocytosis Panel analyzes genes that are associated with this condition [2].

These diagnostic tests can help differentiate primary from secondary erythrocytosis and confirm the diagnosis of familial erythrocytosis.

References: [10] - Definition of PV may have an erythrocytosis and needs further investigation. [12] - Investigations to differentiate primary from secondary erythrocytosis. [14] - Erythrocyte mass can be measured directly to confirm absolute erythrocytosis by nuclear isotope dilution, but this test is not commonly used.

Treatment Options for Familial Erythrocytosis

Familial erythrocytosis, also known as primary familial polycythemia, is a rare inherited condition characterized by an increased number of red blood cells (erythrocytes). While there are no specific treatments that can cure the condition, various medications and therapies can help manage its symptoms.

• Medicine to reduce red blood cells: Hydroxycarbamide is one such medication that can be taken as tablets every morning. It is generally well-tolerated but should not be used without consulting a hematologist.
• Cytotoxic therapy: In high-risk patients, cytotoxic therapy may be indicated. The drug of choice in such cases is hydroxyurea due to its efficacy in preventing thrombosis and low toxicity profile.

Consultation with a Hematologist

It's essential to consult with a hematologist for proper management of familial erythrocytosis. They can provide personalized guidance on the most suitable treatment options based on individual circumstances.

Investigations to Differentiate Primary from Secondary Erythrocytosis

Initial tests to differentiate primary from secondary erythrocytosis include:

• A complete blood count
• Peripheral blood film
• Renal and liver function tests
• Determination of the ferritin level

These investigations can help determine the underlying cause of erythrocytosis, which is crucial for effective management.

Relative Erythrocytosis Treatment

For relative erythrocytosis, treatment involves giving fluids by mouth or intravenously and addressing any underlying conditions contributing to low plasma volume.

The differential diagnosis for familial erythrocytosis, also known as primary familial and congenital polycythemia (PFCP), is crucial to rule out other conditions that may present with similar symptoms.

According to the medical literature [8], the differential diagnosis of PFCP includes:

• Polycythemia vera (PV): a stem cell disorder characterized by an overproduction of red blood cells, which can be excluded through specific diagnostic criteria.
• Other congenital and familial disorders: such as hereditary spherocytosis, thalassemia, and other rare genetic conditions.

To establish a diagnosis of PFCP, it is essential to identify relatives with isolated erythrocytosis, as this condition is characterized by an absolute increased red cell mass since birth and/or similar phenotype also present in relatives [14].

The diagnostic process involves a careful history and examination, followed by laboratory tests to confirm the presence of erythrocytosis. In some cases, genetic testing may be necessary to identify specific mutations associated with PFCP.

It is worth noting that the differential diagnosis for familial erythrocytosis can be extensive, and it is essential to consider a wide range of conditions when evaluating patients with this condition [13].