Eg; In cardiac complications, patient will present with chest pain, difficulty in bresthing, dizziness, sweating and other features of myocardial infarction/ angina[4]. [explainmedicine.com]

This is a previously unreported beta chain hemoglobin variant present. This hemoglobin variant is named as Hemoglobin Hyden based on the place where this is found in Hyden, Kentucky. [dc.etsu.edu]

A seven basepair direct repeat sequence is present in the normal EpoR gene at the site of this mutation, consistent with the slipped mispairing model for the generation of short deletions during DNA replication. [ncbi.nlm.nih.gov]

Only in one family was more than one sibling affected with any malignancy; in family 2 a brother presented with renal cancer at age 58 years and a sister with breast cancer at age 55 years. In family 4, mother presented with PV and father with CML. [nature.com]

Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. [orpha.net]

• Plethora

  Clinical manifestations (present in some, but not all) were usually relatively mild (predominantly chronic headache and plethora) and relieved by phlebotomy (see Management ). [ncbi.nlm.nih.gov]

  ],[14],[15],[16] Of note, this clinical variability has been observed within the members of the same affected family.[6] The vast majority of PFCP patients manifested clinically with mild hyperviscosity features such as fatigue, dizziness, headache, plethora [jahjournal.org]

  He had headaches and marked plethora. Erythropoietin levels were not elevated. The disorder was characterized in middle age in other members of the family by hypertension, cardiovascular and thromboembolic phenomena, and abnormal bleeding. [datapunk.net]

  Typical findings for polycythemia: In many children the only manifestation will be plethora. Alternatively, polycythemia may be discovered inadvertently on a routine CBC. Other symptoms may include headache, pruritus, dizziness and sweating. [clinicaladvisor.com]

• Hunting

  McMullin MF, Bareford D, Campbell P, Green AR, Harrison C, Hunt B, et al. Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol 2005;130:174-95. [PUBMED] 46. Winslow RM. [jahjournal.org]

  Cold Spring Harb Symp Quant Biol. 1992; 57 :95–106. [ PubMed : 1339709 ] McMullin MF, Bareford D, Campbell P, Green AR, Harrison C, Hunt B, Oscier D, Polkey MI, Reilly JT, Rosenthal E, Ryan K, Pearson TC, Wilkins B., General Haematology Task Force of [ncbi.nlm.nih.gov]

  Block AJ, Boysen PG, Wynne JW, Hunt LA: Sleep apnea, hypopnea and oxygen desaturation in normal subjects. A strong male predominance. N Engl J Med 300:513, 1979. 40. [medtextfree.wordpress.com]

• Gangrene

  No digital infarcts, ulcers or gangrene was seen. Chest, cardiovascular system and central nervous system examinations including fundus examination were normal. [sjmms.net]

• Splenomegaly

  289.52 Splenic sequestration 289.53 Neutropenic splenomegaly 289.59 Other diseases of spleen 289.7 Methemoglobinemia 289.81 Primary hypercoagulable state 289.82 Secondary hypercoagulable state 289.83 Myelofibrosis 289.84 Heparin-induced thrombocytopenia [healthprovidersdata.com]

  The hematological features include the presence of isolated erythrocytosis without evolution into leukemia or other myeloproliferative disorders, absence of splenomegaly, normal white blood cell and platelet counts, and low plasma EPO levels. [orpha.net]

  The mean RBC volume at diagnosis and the incidence of splenomegaly appear to be higher in familial than nonfamilial cases. [mdedge.com]

• Fissured Tongue

  Examination revealed a conscious, cooperative, well-built man with a plethoric look, ruddy complexion, mild icterus, mild conjunctival injection, macroglossia with a deep median fissure, tongue tie, an accessory thumb on the left hand, a pulse rate of [sjmms.net]

• Skin Discoloration

  Physical examination is only significant for BMI of 32.46 otherwise no skin discoloration or cyanosis. [dc.etsu.edu]

• Conjunctival Injection

  Examination revealed a conscious, cooperative, well-built man with a plethoric look, ruddy complexion, mild icterus, mild conjunctival injection, macroglossia with a deep median fissure, tongue tie, an accessory thumb on the left hand, a pulse rate of [sjmms.net]

• Headache

  Typical symptoms include red skin cyanosis, expressed headaches, exertional dyspnea, tachycardia and disruption of the heart. [medicalformat.com]

  Complication Familial erythrocytosis complications Complications of polycystic kidney kidney tuberculosis kidney cancer Erythrocytosis common symptoms are dizziness, headache, headache, fatigue, palpitations, insomnia, eyes afraid of hot sweating; sometimes [healthfrom.com]

  Lethargy, confusion, headache, dizziness These symptoms are due to central nervous system disturbances with hyperviscosity causing poor perfusion[3]. [explainmedicine.com]

  Here we discuss a case of Familial Polycythemia likely due to novel hemoglobin variant. 42-year Caucasian male presents to the clinic with high hemoglobin for several years but otherwise denies any symptoms of headache, vision changes, chest pain. [dc.etsu.edu]

  This may cause sluggishness, irritability, headache, dizziness, fainting, disturbances of sensation in the hands and feet, and a feeling of fullness in the head. There may be episodes of acute pain as spontaneous clots occur in the blood vessels. [medical-dictionary.thefreedictionary.com]

• Forgetful

  Arcasoy MO, Degar BA, Harris KW, Forget BG. Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 1997;89:4628-35. [PUBMED] 14. Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT, et al. [jahjournal.org]

  Haematologica. 2008; 93 :1072–5. [ PubMed : 18492694 ] Arcasoy MO, Degar BA, Harris KW, Forget BG. Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. [ncbi.nlm.nih.gov]

  Arcasoy MO, Degar BA, Harris KW, Forget BG: Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood 89:4628, 1997. 58. [medtextfree.wordpress.com]

• Altered Mental Status

  The hyperviscosity syndrome is characterized by symptoms including headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia, and myalgia, and may be associated with altered mental status. [ncbi.nlm.nih.gov]

However, it has never been shown that an exhaustive workup for malignancy is cost-effective or beneficial. [drsami.com]

Confirming a high hemoglobin and hematcrit level is imperative before embarking on a major workup for polycythemia since a high value may return to normal without any intervention. [clinicaladvisor.com]

[…] can be established by the assessment of erythrocyte NADH-reductase (Cb5R) activity and Hb electrophoresis followed by DNA mutational analysis for Cb5R gene and sequencing for both α and β chains.[41] Diagnostic Approach During the initial diagnostic workup [jahjournal.org]

• Hemoglobin Increased

  increased to the organization to reduce oxygen, Tissue hypoxia to stimulate erythropoietin increased, resulting in increased red blood cells. [healthfrom.com]

  increase of 4% for each 1000-m increase in altitude), congenital methemoglobinemia, and other high–oxygen affinity hemoglobinopathies stimulating increased Epo production. [findmeacure.com]

• Hematocrit Increased

  NEUROLOGIC Central nervous system Headaches,Dizziness,Intracerebral hemorrhage LABORATORY ABNORMALITIES Low or normal serum erythropoietin INHERITANCE Autosomal dominant HEMATOLOGY Erythrocytosis,Increased red blood cell mass,Increased hematocrit,Increased [datapunk.net]

  Increased hemoglobin; Normal oxygen affinity of hemoglobin; Hypersensitivity of erythroid colony-forming units to erythropoietin (EPO, 133170 ) LABORATORY ABNORMALITIES: Low or normal serum erythropoietin MISCELLANEOUS: Fatigue; Variable phenotype, [genome.jp]

Treatment Treatment of familial polycythemia Department of Internal Medicine: Department of Hematology Treatment: symptomatic treatment Treatment cycle: the disease can be repeated, so the treatment cycle is not clear Cure rate: symptomatic treatment, [healthfrom.com]

Ayalew Tefferi, MD, and a team of authoritative practicing physicians concisely detail their most effective approaches to the diagnosis and treatment of a wide variety of hematological disorders, including anemia and other cytopenias, primary and secondary [books.google.com]

Research on treatment modalities is ongoing. [medical-dictionary.thefreedictionary.com]

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 [medicalformat.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis Primary familial polycythemia does not necessarily carry an adverse prognosis in early life and most patients have a benign clinical course, but it is associated with an increased risk of thrombosis and vascular mortality in later life. [orpha.net]

It is hoped that greater knowledge of prognosis may be obtained by further observations of these patients. Received May 28, 1957. Accepted July 25, 1957. [pediatrics.aappublications.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Introduction Etiology Prevention Complication Symptom Examine Diagnosis Treatment Basic Nursing Introduction Introduction to familial erythrocytosis Oxygen affinity increased hemoglobin, due to changes in amino acid composition of hemoglobin, so that [healthfrom.com]

There are two distinct forms of the disease: Primary polycythemia (polycythemia vera) is a myeloproliferative disorder of unknown etiology. [medical-dictionary.thefreedictionary.com]

Etiology Primary familial polycythemia is caused by mutations in the EPO receptor ( EPOR ) gene (19p13.3-p13.2) resulting in hypersensitivity to EPO. [orpha.net]

Only case reports, but no analytical epidemiological studies on familial aggregation of PV, are available. 2, 3, 4 The case reports included parent–child pairs of PV. [nature.com]

Summary Epidemiology Prevalence is unknown. Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. [orpha.net]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.com]

To search for EPO-receptor changes as a possible pathophysiologic mechanism, we examined, by Southern blot analysis, genomic DNA samples from affected and nonaffected family members, as well as three patients with PV. [ashpublications.org]

Pathophysiology of anemia and erythrocytosis. Crit Rev Oncol Hematol. 2007 Nov;64(2):139-58. Epub 2007 Jul 25. Review. Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. [ghr.nlm.nih.gov]

packed cell volume increased, PCV increased, primary familial and congenital polycythemia, PFCP, familial erythrocytosis, hereditary erythrocytosis, congenital erythrocytosis, inherited erythrocytosis Overview Historical Perspective Classification Pathophysiology [wikidoc.org]

Until recently, the pathophysiology of polycythemia vera was unclear. [findmeacure.com]

Prevention Prevention of familial polycythemia The disease no effective preventive measures, early detection of early diagnosis is the key to prevention and treatment of this disease. [healthfrom.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]

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. [medicalformat.com]

Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. [icdlist.com]

A greater understanding of the predisposing genes and mutations could lead to new ways of treating and preventing PV. [oncologynurseadvisor.com]