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familial erythrocytosis 1
ICD-10 Codes
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Description
Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration [8]. This condition leads to an elevated number of red blood cells in the body, which can cause various symptoms such as headaches, dizziness, nosebleeds, and others [9].
In ECYT1, the primary function of these excess red blood cells is not fully understood. However, it is believed that they may be produced due to mutations or abnormalities in the production of erythropoietin (EPO), a hormone responsible for stimulating the production of red blood cells [10].
ECYT1 is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to express the condition. This means that if one parent has ECYT1, each child has a 50% chance of inheriting the condition.
It's worth noting that familial erythrocytosis-4 (ECYT4) and primary familial polycythemia are also inherited conditions characterized by increased red blood cell mass and hemoglobin concentration [3][2]. However, ECYT1 is specifically mentioned as an autosomal dominant disorder in the provided context.
Additional Characteristics
- Inherited in an autosomal dominant pattern
- Increased serum red blood cell mass
- Hemoglobin concentration elevated
- Elevated number of red blood cells in the body
- Headaches, dizziness, nosebleeds, and others as symptoms
- Mutations or abnormalities in erythropoietin production
- 50% chance of inheriting if one parent has ECYT1
- Familial erythrocytosis-4 (ECYT4) and primary familial polycythemia also inherited conditions
Signs and Symptoms
Common Signs and Symptoms of Familial Erythrocytosis
Familial erythrocytosis, also known as primary familial polycythemia, is a rare inherited disorder characterized by an excessive production of red blood cells. The signs and symptoms of this condition can vary from person to person, but here are some common ones:
- Headaches: Many people with familial erythrocytosis experience headaches, which can range from mild to severe [1].
- Dizziness: Some individuals may feel dizzy or lightheaded due to the increased red blood cell count [4].
- Nosebleeds: Excess red blood cells can cause nosebleeds in some cases [4][8].
- Shortness of breath: The increased red blood cell count can lead to shortness of breath, especially during physical activity [4][8].
It's essential to note that not everyone with familial erythrocytosis will experience all of these symptoms. In many cases, the condition may be asymptomatic or only mildly symptomatic.
References: [1] - Signs and symptoms of familial erythrocytosis can include headaches... (Search Result 1) [4] - ...Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. (Search Result 4) [8] - Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. (Search Result 8)
Additional Symptoms
- Shortness of breath
- Headaches
- Nosebleeds
- dizziness
Diagnostic Tests
Based on the provided context, here are some diagnostic tests associated with familial erythrocytosis:
- Imaging studies: Imaging, including renal ultrasound, computed tomography scan of the abdomen, and neuroimaging, may be indicated to search for lesions [4].
- Genetic testing: The Invitae Familial Erythrocytosis Panel analyzes genes that are associated with familial erythrocytosis (also known as familial polycythemia) [2], [10]. This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms [5].
- Blood tests: Testing whole blood in affected patients may not definitively determine germline status, but cultured skin fibroblasts are the preferred sample type [3].
- Carrier testing and presymptomatic testing: Carrier testing of parents and other relatives for recurrence risk assessment, as well as presymptomatic testing of at-risk family members for medical management, may be recommended [8].
These diagnostic tests can help identify inherited/germline DNA variants associated with familial erythrocytosis.
Additional Diagnostic Tests
- Blood tests
- Genetic testing
- Imaging studies
- Carrier testing and presymptomatic testing
Treatment
Based on the available information, it appears that there are limited treatment options for familial erythrocytosis.
- Medicine to reduce red blood cells: Hydroxycarbamide is a medication that can be taken as tablets every morning to help reduce the number of red blood cells in the body [6].
- Phlebotomy: Regular blood withdrawals, also known as phlebotomy, may be necessary to manage the condition. This involves using a needle in a vein to remove excess red blood cells from the body [2].
It's worth noting that these treatment options are not curative and may need to be continued over time to manage the condition.
- No specific drug treatment: Unlike other forms of erythrocytosis, such as polycythemia vera or tumor-associated erythrocytosis, there is no specific drug treatment mentioned for familial erythrocytosis [1].
It's also important to note that in some cases, removing the underlying cause of the condition may be necessary. For example, if the erythrocytosis is caused by a hormone disorder, treating the disorder may help alleviate symptoms.
- Removing the tumor: In cases where the erythrocytosis is associated with a tumor, removing the tumor can be curative [5].
Overall, it seems that familial erythrocytosis requires a multi-faceted approach to management, including medication and phlebotomy, as well as addressing any underlying causes.
References: [1] - Context result 4 [2] - Context result 2 [5] - Context result 5 [6] - Context result 6
Recommended Medications
- Hydroxycarbamide
- Phlebotomy
๐ 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
Differential Diagnosis of Familial Erythrocytosis
Familial erythrocytosis, also known as hereditary polycythemia, is a rare genetic disorder characterized by an increased concentration of red blood cells. The differential diagnosis for familial erythrocytosis includes several conditions that can present with similar symptoms.
- Polycythemia Vera: This is a type of myeloproliferative neoplasm (MPN) that can cause an overproduction of red blood cells, white blood cells, and platelets. However, polycythemia vera is typically associated with mutations in the JAK2 gene, which is not present in familial erythrocytosis [8].
- Familial Polycythemia: This is a rare genetic disorder that can cause an increased concentration of red blood cells due to inherited mutations. The differential diagnosis for familial polycythemia includes conditions such as hereditary hemochromatosis and beta-thalassemia major [9].
- High-Affinity Hemoglobins: Certain genetic mutations can lead to the production of high-affinity hemoglobins, which can cause an increased concentration of red blood cells. These mutations are typically inherited in an autosomal dominant pattern [6].
Key Points:
- Familial erythrocytosis is a rare genetic disorder characterized by an increased concentration of red blood cells.
- The differential diagnosis for familial erythrocytosis includes polycythemia vera, familial polycythemia, and high-affinity hemoglobins.
- Polycythemia vera is typically associated with mutations in the JAK2 gene, which is not present in familial erythrocytosis.
References:
[6] by MF McMullin ยท 2019 ยท Cited by 23 โ Among the causes of hereditary erythrocytosis are mutations in the genes in the oxygen sensing pathway and high-affinity hemoglobins. Hereditary ... [8] [8] by ENGESP CAT โ The differential diagnosis includes polycythemia vera which can be excluded based on the absence of mutations in the JAK2 gene (9p24). Familial polycythemia is ... [9] Oct 31, 2024 โ A quick way to screen for polycythemia vera without excessive diagnostic testing is to determine if a hereditary pattern to the erythrocytosis ...
Additional Differential Diagnoses
- Familial Polycythemia
- High-Affinity Hemoglobins
- polycythemia vera
Additional Information
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- A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
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