familial erythrocytosis 7

Familial erythrocytosis-7 (ECYT7) is a condition characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia [10]. This means that the red blood cells are more efficient at carrying oxygen, but they also lead to an increase in red blood cell mass as a compensation mechanism to ensure normal oxygen tissue delivery [3].

As a result, patients with ECYT7 are generally asymptomatic due to normal red cell morphology and compensatory polycythemia maintaining normal oxygen tissue delivery [10]. However, the exact symptoms may vary depending on individual cases.

The primary function of hemoglobin is to carry oxygen from the lungs to tissues and organs throughout the body. In individuals with ECYT7, the increased oxygen affinity of hemoglobin leads to decreased delivery of oxygen into the peripheral tissues, which can have various effects on the body [5].

ECYT7 is an inherited condition, and mutations in human and/or mouse homologs are associated with this disease [6]. It is also known as alpha-globin type erythrocytosis or alpha-globin type polycythemia.

References: [3] - Context 3 [5] - Context 5 [6] - Context 6 [10] - Context 10

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. This can lead to various signs and symptoms, which are often related to the excess red blood cells.

Common Symptoms:

• Headaches [3][5]
• Dizziness [3][8]
• Nosebleeds [3][8]
• Shortness of breath [3][4][8]
• Itchiness, especially after a warm bath or shower [7]
• Numbness, tingling, burning, or weakness in your hands, feet, arms, or legs [7]

Other Possible Symptoms:

• Blurred vision [5]
• Red skin, particularly in the face, hands, and feet [5]
• Feeling of fullness [7]
• Paresthesia (tingling or numbness) in the extremities [12]
• Hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia) [12]

Important Note:

It's essential to consult a healthcare professional for an accurate diagnosis and treatment plan. These symptoms can also be indicative of other conditions, so it's crucial to rule out any underlying health issues.

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. [12] Clinical manifestations relate to the erythrocytosis and can include plethora, the hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia ...

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 tests can be performed.

• Imaging tests: Imaging tests such as renal ultrasound, computed tomography scan of the abdomen, and neuroimaging may be indicated to search for lesions [1].
• Complete Blood Count (CBC): A complete blood count shows how many red blood cells you have and your hemoglobin levels. This test is often used to diagnose erythrocytosis [8].
• Erythrocytosis Gene Sequencing Panel: This panel uses Sanger sequencing to detect variants in the HBA1, HBA2, and HBB genes. It is indicated for confirmation of genetic mutations associated with familial erythrocytosis [9].
• Invitae Familial Erythrocytosis Panel: This test analyzes genes that are associated with familial erythrocytosis (also known as familial polycythemia) [2].
• Imaging tests and blood tests: A combination of imaging tests and blood tests, including a CBC, may be used to diagnose familial erythrocytosis.

It's worth noting that the diagnosis is based on the evidence of finding relatives with isolated erythrocytosis without splenomegaly, low levels of serum EPO, normal affinity of hemoglobin for oxygen, and absence of other causes of polycythemia [10].

References: [1] McMullin MF (2019) Cited by 23 — Imaging, including renal ultrasound, computed tomography scan of the abdomen, and neuroimaging, may be indicated to search for lesions. [2] The Invitae Familial Erythrocytosis Panel analyzes genes that are associated with familial erythrocytosis (also known as familial polycythemia). [8] What tests will be done to diagnose erythrocytosis? · Complete blood count (CBC): A complete blood count shows how many red blood cells you have and your ... [9] We use Sanger sequencing to detect variants in the HBA1, HBA2, and HBB genes. Indications: Erythrocytosis Gene Sequencing Panel: • Confirmation of genetic ... [10] by ENGESP CAT — The diagnosis is based on the evidence of finding relatives with isolated erythrocytosis without splenomegaly, low levels of serum EPO, normal affinity of ...

Treatment Options for Familial Erythrocytosis

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

• Medications: In some cases, medications such as hydroxycarbamide may be prescribed to reduce the production of red blood cells. However, these medications should only be taken under the guidance of a healthcare professional.
• Consultation with a hematologist: It is essential to consult with a hematologist (a doctor specializing in blood disorders) for proper diagnosis and treatment planning.

According to [7], consultation with a hematologist is recommended for patients with familial erythrocytosis. This expert advice can help determine the best course of treatment, which may include medications or other therapies.

References:

[7] Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor.

Differential Diagnosis of Familial Erythrocytosis

Familial erythrocytosis, also known as hereditary polycythemia, is a rare genetic disorder characterized by an increased red blood cell mass. The differential diagnosis for this condition involves identifying other possible causes of erythrocytosis in the family members.

Possible Causes:

• Polycythemia Vera (PV): A myeloproliferative neoplasm that can cause an increase in red blood cells, white blood cells, and platelets. [7]
• Secondary Erythrocytosis: Caused by conditions such as hypoxic lung disease, cyanotic heart disease, or smoking. [2]
• Genetic Mutations: Alterations in the oxygen-sensing pathway genes (VHL, EGLN1, or EPAS1) can cause familial erythrocytosis. [6]

Key Points to Consider:

• A hereditary pattern of erythrocytosis is a key indicator of familial erythrocytosis.
• Family history and physical examination are crucial in making the diagnosis.
• Other myeloproliferative neoplasms, such as PV, should be ruled out through diagnostic testing.

References:

[7] Oct 31, 2024 - A quick way to screen for polycythemia vera without excessive diagnostic testing is to determine if a hereditary pattern to the erythrocytosis is present. [6] by K Hussein · 2012 · Cited by 18 — Alterations of the genes in the oxygen-sensing pathway can cause such a secondary familial erythrocytosis (VHL, EGLN1 or EPAS1 mutations). [2] by S Mithoowani · 2020 · Cited by 76 — Secondary erythrocytosis, which is more common than PV, has a broad differential diagnosis that includes hypoxic lung disease, cyanotic ...