Familial erythrocytosis
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
Familial erythrocytosis is an inherited condition characterised 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. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.
Descripción
Familial erythrocytosis is an inherited condition characterised 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. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Benign familial polycythemia
Congenital erythrocytosis
Familial polycythemia
Hereditary erythrocytosis
Primary familial polycythemia
Related patient information and medicines
Patient information leaflet
Policitemia vera
Polycythaemia rubra vera (PRV) es un myeloproliferative disorder, which means the bone marrow makes too many blood cells. It is also sometimes just called polycythaemia (PV). As these stem cells can develop into either red blood cells, platelets or white blood cells, if you have PRV, you may also have an abnormally high number of platelets and.
Patient information leaflet
Cardiomiopatía dilatada
Dilated cardiomyopathy is a condition dónde the heart muscle becomes stretched and thin. The heart becomes enlarged (dilates) and pumps blood less well. Another possibility is that an unknown viral infection may be responsible. About one in four people with idiopathic dilated miocardiopatía have a familial (hereditary) form. This means that.
Patient information leaflet
Evaluación del riesgo para la salud cardiovascular
A cardiovascular health risk assessment provides an accurate estimate of your risk of developing cardiovascular disease (eg, angina, heart attack, stroke or peripheral arterial disease) over the following 10 years, and provides an opportunity for you to make any changes that will reduce this risk. Who is a persona with familial.
Patient information leaflet
Hiperlipidemia
Hiperlipidemia means a high level of cholesterol or triglycerides in your blood. What causes hyperlipidaemia. Hyperlipidaemia is often found when peopl... It can also be the result of drinking too much alcohol. It can be something that you may have inherited through your family genes (known as primary hyperlipidaemia) and approximately 1 person.
Patient information leaflet
Pénfigo vulgar
Pénfigo vulgar es un very serious skin disease that causes blisters. It is rare. Pemphigus vulgaris is more serious than most other blistering skin conditions. Before treatment became available, most people with the condition used to die soon after the disease started. These days most cases can be controlled with treatment. Treatment is usually.
Patient information leaflet
Leucemia linfocítica crónica
Chronic lymphocytic leukaemia (CLL) is a condition where you have many abnormal B lymphocyte white blood cells. What is chronic lymphocytic leukaemia. Chronic lymphocytic leukaemia (CLL) is a condition where you have many abnormal B lymphocyte white blood cells. The lymphocytes look normal under a microscope but are abnormal as they do not.
Lecturas adicionales y referencias
- Familial erythrocytosis; MedlinePlus, National Library of Medicine.
- Cario H. Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. Ann Hematol. 2005 Mar;84(3):137-45. doi: 10.1007/s00277-004-0985-1. Epub 2004 Dec 15.
- Hodges VM, Rainey S, Lappin TR, Maxwell AP. Pathophysiology of anemia and erythrocytosis. Crit Rev Oncol Hematol. 2007 Nov;64(2):139-58. doi: 10.1016/j.critrevonc.2007.06.006. Epub 2007 Jul 25.
- Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6):844-52. doi: 10.1111/j.1365-2141.2009.08069.x. Epub 2010 Jan 20.
- Hussein K, Percy M, McMullin MF. Clinical utility gene card for: familial erythrocytosis. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25. No abstract available.
- Lee FS, Percy MJ. The HIF pathway and erythrocytosis. Annu Rev Pathol. 2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321.
- McMullin MF. HIF pathway mutations and erythrocytosis. Expert Rev Hematol. 2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68.
- Percy MJ, Lee FS. Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008 Jul;93(7):963-7. doi: 10.3324/haematol.13250. No abstract available.
- Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.