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familial erythrocytosis 2

ICD-10 Codes

Related ICD-10:

Description

Familial erythrocytosis type 2 is associated with defects in oxygen-sensing pathways, which are variants in the VHL gene [1]. This genetic mutation affects the regulation of red blood cell production, leading to an increase in the number of red blood cells (erythrocytes) in the body.

In individuals with familial erythrocytosis type 2, the VHL gene mutation disrupts the normal feedback mechanism that regulates erythropoietin production. As a result, there is an overproduction of erythropoietin, which stimulates the bone marrow to produce more red blood cells [3].

This condition can be inherited in an autosomal dominant fashion, meaning that a single copy of the mutated gene is sufficient to cause the disorder [2]. The symptoms and characteristics of familial erythrocytosis type 2 are similar to those of other types of familial erythrocytosis, including increased red blood cell mass, elevated hemoglobin levels, and hypersensitivity to erythropoietin.

It's worth noting that familial erythrocytosis type 2 is a rare disorder, and more research is needed to fully understand its causes and effects on the body [4].

Additional Characteristics

  • Familial erythrocytosis type 2
  • defects in oxygen-sensing pathways
  • variants in the VHL gene
  • increase in red blood cells (erythrocytes)
  • VHL gene mutation disrupts normal feedback mechanism that regulates erythropoietin production
  • overproduction of erythropoietin
  • bone marrow produces more red blood cells
  • increased red blood cell mass
  • elevated hemoglobin levels
  • hypersensitivity to erythropoietin

Signs and Symptoms

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 a range of symptoms, which can vary from person to person.

Common Symptoms:

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

These symptoms occur due to the increased number of red blood cells in the blood, which can cause the blood to become thicker and more viscous. This can lead to a range of complications, including:

Other Possible Symptoms:

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

Important Note:

It's essential to note that not everyone with familial erythrocytosis will experience symptoms. In some cases, the condition may be asymptomatic, and it's only detected through routine blood tests.

References:

[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 ...

Additional Symptoms

  • Shortness of breath
  • Headaches
  • Nosebleeds
  • Red skin, particularly on the face, hands, and feet
  • Itchiness, especially after a warm bath or shower
  • Numbness, tingling, burning, or weakness in the hands, feet, arms, or legs
  • blurred vision
  • dizziness

Diagnostic Tests

Based on the provided context, here are some diagnostic tests for familial erythrocytosis:

  • Initial investigation: A clear erythrocytosis with a raised EPO level is often observed in patients with secondary erythrocytosis [2].
  • Genetic testing: The Invitae Familial Erythrocytosis Panel analyzes genes associated with familial erythrocytosis, including HBA1, HBA2, and HBB genes [3, 10]. This panel is used to assess for inherited/germline DNA variants associated with familial erythrocytosis [4, 7].
  • Hemoglobin electrophoresis testing: This test is included in the evaluation of patients presenting with lifelong elevation in hemoglobin or hematocrit, usually with a positive family history [5].
  • Sanger sequencing: This technique is used to detect variants in the HBA1, HBA2, and HBB genes, which are associated with familial erythrocytosis [9].

These diagnostic tests can help confirm the presence of inherited/germline DNA variants associated with familial erythrocytosis.

Additional Diagnostic Tests

  • Genetic testing
  • Sanger sequencing
  • Initial investigation
  • Hemoglobin electrophoresis testing

Treatment

Based on the context provided, it appears that there are limited treatment options available for familial erythrocytosis.

Unfortunately, there is no specific information in the search results about drug treatments for familial erythrocytosis. However, I can provide some general information about the condition and its management.

Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes) [6]. The most common treatment for polycythemia vera, a related condition, is having frequent blood withdrawals, using a needle in a vein (phlebotomy) [2].

However, it's worth noting that the search results do not provide any specific information about drug treatments for familial erythrocytosis. Treatments for erythrocytosis in general include venesection (removing blood), medicine to reduce red blood cells, and medicine to prevent blood clots [4]. But again, these are general treatments and not specifically tailored for familial erythrocytosis.

It's also worth noting that the search results mention that cytotoxic therapy is indicated in high-risk patients with polycythemia vera, but this is not a specific treatment for familial erythrocytosis [8].

Therefore, based on the information provided, it appears that there are limited treatment options available for familial erythrocytosis. However, further research and consultation with a medical professional would be necessary to determine the best course of action.

References: [2] The most common treatment for polycythemia vera is having frequent blood withdrawals, using a needle in a vein (phlebotomy). [4] Treatments for erythrocytosis · Venesection (removing blood) · Medicine to reduce red blood cells · Medicine to prevent blood clots. [6] Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). [8] Cytotoxic therapy is indicated in high-risk patients, and the drug of choice is hydroxyurea because of its efficacy in preventing thrombosis and low ...

Recommended Medications

  • Phlebotomy
  • Medicine to reduce red blood cells
  • Medicine to prevent blood clots
  • hydroxyurea

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Based on the provided context, it appears that Familial Erythrocytosis Type 2 (FECV) is a rare condition characterized by an increased number of red blood cells. When considering differential diagnoses for FECV, several conditions should be taken into account.

  • Polycythemia Vera: This is a disorder of the multipotent hematopoietic stem cell that manifests as excess production of normal erythrocytes and variable overproduction of leukocytes and platelets [14]. It can be excluded from differential diagnoses through specific tests.
  • Chuvash Polycythemia: This is a rare, autosomal recessive disorder caused by mutations in the VHL gene. It leads to increased red blood cell mass due to chronic hypoxia [13].
  • Von Hippel-Lindau Syndrome (VHL): This genetic disorder can also cause polycythemia as part of its clinical manifestations [2]. The possibility of this diagnosis should be considered in patients with VHL disease to avoid unnecessary invasive studies.
  • Polycythemia associated with other conditions: Other conditions such as Chuvash polycythemia or von Hippel-Lindau syndrome can also cause polycythemia and need to be ruled out through differential diagnoses [13].

In addition to these conditions, the differential diagnosis for familial erythrocytosis 2 should also include:

  • Hereditary Erythrocytosis: This is a rare condition characterized by an increased number of red blood cells due to inherited mutations. It needs to be considered as a possible explanation in patients presenting with elevated blood counts [12].
  • Hereditary Thrombocytosis: This is another rare condition that can cause an increase in platelet count due to inherited mutations. It should also be considered in the differential diagnosis of familial erythrocytosis 2 [12].

Overall, a comprehensive approach to differential diagnoses for familial erythrocytosis 2 involves considering various conditions that can cause an increase in red blood cell mass.

References:

[1] Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). Explore symptoms, inheritance, genetics of this condition. [2] Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance ... [12] In the patient presenting with an elevated blood count who does not have an acquired clonal disorder causing a myeloproliferative neoplasm, hereditary erythrocytosis or hereditary thrombocytosis needs to be considered as a possible explanation. A ... [13] by ENGESP CAT — The differential diagnosis includes polycythemia vera which can be excluded ... Polycythemia associated with von Hippel-Lindau syndrome or Chuvash polycythemia or ... [14] Polycythemia vera (PV) is a disorder of the multipotent hematopoietic stem cell that manifests as excess production of normal erythrocytes and variable overproduction of leukocytes and platelets. It is grouped with the Philadelphia chromosome–negative myeloproliferative disorders and can ...

Additional Differential Diagnoses

Additional Information

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A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
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