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]

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]

• 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]

  Hematologic manifestations include the presence of isolated erythrocytosis without progression to leukemia or other myeloproliferative disorders, absence of splenomegaly, normal white blood cell and platelet counts, and low levels of serum EPO (in primary [bloodgenetics.com]

• Plethora

  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]

  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]

  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]

• 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]

• Facial Pain

  pain / cephalalgia / migraine - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute abdominal pain / [csbg.cnb.csic.es]

• Headache

  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]

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

  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]

• 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]

• Morning Headache

  History of sleep apnoea (snoring loudly in sleep, day time sleepiness, poor sleep, morning headache and reduced performance) leads to intermittent closure/ collapse of the pharyngeal air way causing apnoic episodes during sleep. [explainmedicine.com]

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

A patient’s travel history should be taken to determine the likelihood of high-altitude effect and thus possibly avoid having to conduct an extensive workup. [what-when-how.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

  Diagnosis Diagnosis of familial erythrocytosis Patients with erythrocytosis and family history should consider the disease, hemoglobin electrophoresis found abnormal hemoglobin zone and / or hemoglobin oxygen affinity significantly increased can confirm [healthfrom.com]

  Definition: Polycythemia is the increase of the RBC count, hemoglobin, and total RBC volume, accompanied by an increase in total blood volume. [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]

  […] red blood cell mass; Increased hematocrit; 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 [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]

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]

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]

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

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]

Primary familial and congenital polycythemia Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]

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]

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]

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]

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

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Erythrocytosis (ie, increased RBC mass or polycythemia) may be primary, due to an intrinsic defect of bone marrow stem cells [mayomedicallaboratories.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]

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]