Hereditary familial polycythemia - causes, symptoms, diagnosis and treatment

Hereditary familial polycythemia - A set of genetic conditions which are characterized by elevated blood hemoglobin and red blood cells, leading to disruption of its rheological properties. Symptoms of disease depending on its severity may make headaches, disruptions of cardiac rhythm, hemorrhage, thrombotic disorders, cyanosis, or, on the contrary, a crimson shade of skin and mucous membranes. Diagnosis of hereditary erythrocytosis family based on the data of blood and physical examination the patient's laboratory tests. For some forms developed molecular genetic methods for the determination of the disease. Specific treatment for most forms of hereditary erythrocytosis family does not exist, apply symptomatic and supportive therapy.

  • Causes and classification of hereditary family erythrocytosis
  • Symptoms of hereditary family erythrocytosis
  • Diagnosis of hereditary family erythrocytosis
  • Treatment and prognosis of hereditary family erythrocytosis
  • Hereditary familial polycythemia - treatment

  • Hereditary familial polycythemia


    polycythemia. Among the various types of family hereditary erythrocytosis there are forms with different types of inheritance - as an autosomal dominant and autosomal recessive. The latter tend to have more severe and in some cases may lead to death in childhood. Sex distribution of most types of disease has no singularities - of him often suffer equally men and women. Among some ethnic groups (particularly among the Chuvash) observed increased incidence of the disease. For some forms of hereditary erythrocytosis family has not yet identified the key genes, so their etiology and pathogenesis remain unclear.

    von Hippel Lindau syndrome. Hereditary familial polycythemia due to the VHL mutation, has at least two phenotypic forms and is transmitted in an autosomal recessive mechanism.

    general analysis of blood or other medical research. However, some forms of abnormal hemoglobin have such a high affinity for oxygen, which leads to significant tissue hypoxia and subsequent polycythemia.

    Hereditary familial polycythemia type 2 causes a disturbance metabolism in red blood cells, has a brighter clinical course. As a rule, the pathology is diagnosed in early childhood. Typical symptoms include red skin cyanosis, expressed headaches, exertional dyspnea, tachycardia and disruption of the heart. A number of patients with these forms of hereditary family erythrocytosis determined varicose veins and rectum (hemorrhoids). Often reveals an enlarged liver and spleen (hepatosplenomegaly), changing the shape of the distal phalanges and nails ( "drumsticks", "hour glass"), bleeding gums, and frequent nosebleeds. The skin revealed numerous hemorrhages. Can diagnose strokes and heart attacks various organs due to thrombotic disorders.

    For other causes of hereditary erythrocytosis family, in particular - with VHL gene mutations observed more severe course of the disease. There are two kinds of clinical pathology of this type - moderate and severe. The first is characterized by early onset (within 5-8 years), low blood pressure, a pronounced red cyanosis of the skin and mucous membranes, frequent bleeding. The second has a more benign course, occurs in children over 8-9 years and adolescents, cyanosis and bleeding are expressed much weaker. To form a pathology caused by the defective VHL uncharacteristic signs of oxygen starvation of the tissues (shortness of breath, change in shape of the fingers and nails) as hemoglobin oxygen affinity is not changed. Headaches and possible malfunction of the heart due to an increase in blood volume.

    erythropoietin, molecular genetic techniques (produced geneticist physician), the study of hereditary patient's medical history. To exclude acquired or secondary forms of erythrocytosis conduct research aimed at the study of the kidneys, heart and lungs perform a biopsy of bone marrow.

    General blood analysis reveals a significant increase in the amount of hemoglobin and red blood cells their color indicators generally within the normal range or slightly lowered with a deficiency of iron. When a family of hereditary polycythemia significantly increased hematocrit, in some cases, reaching a value of 90% - the phenomenon has received the code name "solid blood." Sometimes there is a slight decrease in the levels of other blood cells, which is caused by the growth of the red bone marrow. Bone marrow biopsy revealed erythroid hyperplasia, in the absence of abnormalities of the kidneys, heart and lungs also indicates hereditary familial polycythemia.

    Electrophoresis can be detected abnormal forms of hemoglobin with an increased affinity for oxygen, there is almost always a high level of erythropoietin. General inspection and other research tools can detect faults of the heart, varicose veins and increased intracranial pressure due to fluid overload. Molecular genetic analysis is now performed only if the forms of hereditary family erythrocytosis caused by mutation of VHL gene. In other cases, to clarify the diagnosis and determine the type of inheritance used by family history.

    myocardial infarction, kidney, lung, stroke, thromboembolism). Sometimes there are neurological disorders caused by fluid overload and increased intracranial pressure - in children it can cause mental retardation and dementia.

    Prevention of hereditary family erythrocytosis



    As with many other genetic diseases, a clear system of prevention of hereditary erythrocytosis family does not exist. For some forms of prenatal genetic diagnosis is possible. It conducts medical and genetic counseling of parents before conception to identify carriers of the defective form of the gene VHL. When you have a confirmed diagnosis of hereditary family erythrocytosis and clarifying its causes requires regular supervision by a doctor, a hematologist to prevent possible complications, the appointment of symptomatic and supportive treatment. In the presence of secondary violations (of the nervous system, heart, kidney) may require consultation by specialists.