A policitemia secundária é um excesso de glóbulos vermelhos no sangue. Isso ocorre porque as células que produzem os glóbulos vermelhos, que funcionam normalmente, recebem um estímulo aumentado para fabricá-los em maior quantidade. Essa condição pode ser congênita (desde o nascimento) ou adquirida (desenvolvida ao longo da vida), sendo então chamada de policitemia secundária congênita ou policitemia secundária adquirida.
Introdução
O que você precisa saber de cara
A policitemia secundária é um excesso de glóbulos vermelhos no sangue. Isso ocorre porque as células que produzem os glóbulos vermelhos, que funcionam normalmente, recebem um estímulo aumentado para fabricá-los em maior quantidade. Essa condição pode ser congênita (desde o nascimento) ou adquirida (desenvolvida ao longo da vida), sendo então chamada de policitemia secundária congênita ou policitemia secundária adquirida.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 47 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:1
CytoplasmCell membraneEndoplasmic reticulumNucleus
Pheochromocytoma
A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity
Erythrocytosis, familial, 8
An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.
Variantes genéticas (ClinVar)
790 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Policitemia secundária
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
The simple virilizing (SV) form of 21-hydroxylase deficiency (21-OHD) is primarily characterized by androgen excess. Gonadal dysfunction is widely acknowledged; however, systemic complications, including renal injury, are often overlooked. This report presents a rare case involving a 25-year-old female diagnosed with SV 21-OHD, who subsequently experienced unanticipated renal insufficiency and secondary polycythemia. Genetic analysis confirmed compound heterozygous mutations in the CYP21A2 gene. The patient demonstrated significant hyperandrogenemia and polycythemia driven by erythropoietin. Following erythrocytapheresis and glucocorticoid replacement therapy, androgen levels normalized, resulting in marked renal function recovery and resolution of polycythemia. This case and a mechanistic review illustrate the potential interplay between chronic hyperandrogenism, erythropoiesis dysregulation, and kidney injury, underscoring the importance of timely hormonal management for the preservation of long-term renal function in CAH (Congenital adrenal hyperplasia).
Anabolic Androgen Abuse-Associated Cerebral Venous Sinus Thrombosis in a Young Adult: A Case Report.
Cerebral venous sinus thrombosis (CVST) is a rare and potentially life-threatening cause of stroke that predominantly affects young adults and often presents with nonspecific symptoms, leading to diagnostic delay. We report the case of a 29-year-old man with no prior medical comorbidities who presented with a progressively worsening headache and new-onset generalized tonic-clonic seizure. Detailed history revealed long-term abuse of anabolic androgenic steroids for bodybuilding purposes. Clinical examination demonstrated papilledema, and laboratory investigations were notable for secondary polycythemia, while an extensive thrombophilia workup was unremarkable. Neuroimaging with computed tomography and magnetic resonance venography confirmed thrombosis of the superior sagittal and right transverse sinuses with associated venous infarction. The patient was managed with therapeutic anticoagulation, antiepileptic therapy, and measures to control intracranial pressure, alongside immediate cessation of androgen use. His clinical course was favorable, with symptomatic improvement, partial radiological recanalization, and complete neurological recovery at follow-up. This case highlights androgen abuse as a rare but important reversible risk factor for CVST and underscores the importance of thorough substance use history taking, early diagnosis, and prompt anticoagulation to optimize outcomes.
Evaluating inflammatory markers in distinguishing polycythemia Vera from secondary polycythemia: a prospect for novel diagnostic marker.
Polycythemia vera (PV) is a myeloproliferative neoplasm. The presence of JAK2 mutations is a major diagnostic criterion for PV. PV is linked to chronic inflammation and an increased risk of thrombosis, and inflammation plays a significant part in the pathophysiology of PV. Testing for JAK2 mutations is expensive and is not available in all laboratories. Simple inflammatory markers, including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and systemic immune-inflammation index (SII), are evaluated in this study as potential diagnostic markers for differentiating patients with PV from other patients with polycythemia. We conducted a retrospective study of the clinical and laboratory data from 281 patients with polycythemia (110 with PV and 181 with secondary polycythemia (SP)) who attended Ghaem Hospital. The diagnosis of PV was established based on the World Health Organization criteria. Individuals who did not meet the criteria were classified as having SP. The median NLR, PLR, and SII in the PV group were considerably elevated compared to the SP group (NLR: 5.00 vs. 1.86, PLR: 261.3 vs. 94.0, SII: 2432.9 vs. 368.8, p < 0.001 for all). The receiver operating characteristic analysis revealed that NLR, PLR, and SII were highly effective in differentiating PV patients from the SP group. Each of these tests showed sensitivities and specificities over 85% and an area under the curve of more than 0.9. SII, NLR, and PLR were all higher in PV than SP, suggesting that these biomarkers, particularly SII, might be helpful in the diagnosis of PV.
Iatrogenic Post-Surgical Cyanosis Due to Vena Caval Redirection to the Left Atrium and Its Transcatheter Management.
During surgery for oval fossa defects, inadvertent suturing of pericardial patches to a prominent Eustachian valve diverts the inferior vena caval blood to the left atrium causing iatrogenic cyanosis. A similar complication may arise after surgery for superior sinus venosus defects. Surgical patch in a wrong plane may direct the superior vena cava towards the left atrium. Early post-operative diagnosis leads to immediate correction. Diagnosis delayed beyond many years lead to chronic hypoxemia and secondary polycythemia. This report details the clinical presentation and imaging of this iatrogenic complication in three patients and explains a transcatheter corrective intervention.
The Utility of Serum Free Testosterone Concentrations in Monitoring Gender-Affirming Testosterone Therapy in Transmasculine Youth with Obesity.
This study aimed to explore the use of serum free testosterone concentrations in transmasculine patients as a more reliable indicator of gender-affirming testosterone therapy than total testosterone concentration. Total testosterone values, recommended by current guidelines, may be impacted by obesity. In addition, this study aimed to characterize the impact of testosterone concentrations on hematocrit and the risk of polycythemia. A retrospective study was conducted of transmasculine patients seen at Boston Children's Hospital Gender Multispecialty Service from 2007 to 2020. Sixty-eight birth-assigned female adolescents who were receiving gender-affirming testosterone therapy and had total and free testosterone concentrations were included. The aims were to determine the fidelity of total and free testosterone concentrations with body mass index (BMI) and to characterize the association of testosterone concentrations with erythrocytosis. Of 68 subjects, 23% were overweight and 40% had obesity. Compared with the group with a healthy BMI, patients with obesity had significantly lower total testosterone concentrations. Free testosterone concentrations did not vary based on BMI category. BMI z-score was inversely correlated with total testosterone, sex hormone-binding globulin, and albumin concentrations but not with free testosterone concentrations. Four percent of subjects developed erythrocytosis (e.g., hematocrit >50%). Neither BMI nor testosterone concentrations were correlated with hematocrit. Free testosterone concentrations are an adjunctive tool in the monitoring of gender-affirming testosterone therapy. In addition, the development of erythrocytosis is independent of serum testosterone concentration and warrants further study to understand factors that may predispose patients to developing secondary polycythemia.
Publicações recentes
Analysis of Blood Group Antigens as Risk Factors for Thrombosis in Polycythemia Vera Patients.
Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
Anabolic Androgen Abuse-Associated Cerebral Venous Sinus Thrombosis in a Young Adult: A Case Report.
Evaluating inflammatory markers in distinguishing polycythemia Vera from secondary polycythemia: a prospect for novel diagnostic marker.
The Utility of Serum Free Testosterone Concentrations in Monitoring Gender-Affirming Testosterone Therapy in Transmasculine Youth with Obesity.
📚 EuropePMC151 artigos no totalmostrando 136
Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
Frontiers in endocrinologyAnabolic Androgen Abuse-Associated Cerebral Venous Sinus Thrombosis in a Young Adult: A Case Report.
CureusEvaluating inflammatory markers in distinguishing polycythemia Vera from secondary polycythemia: a prospect for novel diagnostic marker.
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International journal of chronic obstructive pulmonary diseasePolycythemia secondary to renal dromedary hump in a young healthy woman: a case report.
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Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy PractitionersA cross-sectional comparison of secondary polycythemia in testosterone-deficient men treated with nasal testosterone gel vs. intramuscular testosterone cypionate.
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Scientific reportsObstructive Sleep Apnea Is Associated With Polycythemia in Hypogonadal Men on Testosterone Replacement Therapy.
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Saudi journal of biological sciencesNocturnal Mean Oxygen Saturation Is Associated with Secondary Polycythemia in Young Adults with Obstructive Sleep Apnea, Especially in Men.
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The Journal of the Association of Physicians of IndiaUNUSUAL CAUSE OF BRANCH RETINAL ARTERY OCCLUSION: POLYCYTHEMIA IN A TRANSGENDER MAN FROM UNREGULATED TESTOSTERONE USE.
Retinal cases & brief reportsIncreased Pulmonary GM-CSF Causes Alveolar Macrophage Accumulation. Mechanistic Implications for Desquamative Interstitial Pneumonitis.
American journal of respiratory cell and molecular biologyAnisocytosis is a poor prognostic factor in secondary polycythemia.
Leukemia & lymphomaPolycythemia in Patients With Hereditary Hemochromatosis: Real or Myth?
Journal of clinical medicine researchTreating Myomatous Erythrocytosis Syndrome With Uterine Artery Embolization.
Obstetrics and gynecologyClomiphene for hypogonadism complicated by polycythemia.
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World journal of urologySecondary polycythemia in a sarcoma patient: a commentary about cediranib.
Current oncology (Toronto, Ont.)The role of 18F-FDG PET in the assessment of a benign hematological disorder: polycythemia.
Hellenic journal of nuclear medicineHepatopulmonary syndrome-attributed extreme hypoxemia and polycythemia revealing liver cirrhosis.
The American journal of emergency medicine[Detection and Diagnostic Values of JAK2, CALR, MPL Gene Mutations in 208 Cases of BCR/ABL1 Negative Chronic Myeloproliferative Diseases].
Zhongguo shi yan xue ye xue za zhiIschemic Stroke Caused by Secondary Polycythemia and Incidentally-Found Renal Cell Carcinoma: A Case Report.
The American journal of case reports[A case of severe obstructive sleep apnea hypopnea syndrome with urinary and anal incontinence].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesRelationships of Serum Iron Parameters and Hemoglobin with Forced Expiratory Volume in 1 Second in Patients with Chronic Obstructive Pulmonary Disease.
Korean journal of family medicineA novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report.
BMC cancerSevere Secondary Polycythemia in a Female-to-Male Transgender Patient While Using Lifelong Hormonal Therapy: A Patient's Perspective.
Drug safety - case reportsWhich patients with moderate hypoxemia benefit from long-term oxygen therapy? Ways forward.
International journal of chronic obstructive pulmonary diseaseDoes untreated obstructive sleep apnea cause secondary erythrocytosis?
Respiratory medicineAssociation of subcutaneous testosterone pellet therapy with developing secondary polycythemia.
Asian journal of andrologyCase: Secondary polycythemia due to pazopanib in patients with metastatic renal cell carcinoma.
Canadian Urological Association journal = Journal de l'Association des urologues du CanadaRight Hand Weakness and Headache During Ascent to Mount Everest: A Case of Cerebral Venous Infarction.
The neurologistCerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaHemoglobin Wayne Trait with Incidental Polycythemia.
Annals of clinical and laboratory scienceNovel hematological parameters for the evaluation of patients with myeloproliferative neoplasms: the immature platelet and reticulocyte fractions.
Annals of hematologyRelationship between polycythemia and in-hospital mortality in chronic obstructive pulmonary disease patients with low-risk pulmonary embolism.
Journal of thoracic diseaseHemiretinal Artery Occlusion in an 11-Year-Old Child with Dextrocardia.
Case reports in ophthalmological medicineCerebral venous thrombosis at high altitude: A systematic review.
Revue neurologiqueA Comparison of Secondary Polycythemia in Hypogonadal Men Treated with Clomiphene Citrate versus Testosterone Replacement: A Multi-Institutional Study.
The Journal of urologyQuantification of IGF-1 Receptor May Be Useful in Diagnosing Polycythemia Vera-Suggestion to Be Added to Be One of the Minor Criterion.
PloS oneA novel biological function of soluble biglycan: Induction of erythropoietin production and polycythemia.
Glycoconjugate journalCerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia[Inherited primitive and secondary polycythemia].
La Revue de medecine interneBilateral renal T-cell lymphoma with hepatic infiltration and secondary polycythemia in a dog: Utility of cytology slides.
The Canadian veterinary journal = La revue veterinaire canadienneSymptomatic Secondary Polycythemia Induced by Anti-VEGF Therapy for the Treatment of Metastatic Renal Cell Carcinoma: A Case Series and Review.
Clinical genitourinary cancerMatrix Metalloproteinases 2 and 9 Polymorphism in Patients With Myeloproliferative Diseases: A STROBE-Compliant Observational Study.
MedicinePulmonary embolism in a patient of tetralogy of Fallot: a diagnostic challenge.
The American journal of emergency medicineAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report.
- Anabolic Androgen Abuse-Associated Cerebral Venous Sinus Thrombosis in a Young Adult: A Case Report.
- Evaluating inflammatory markers in distinguishing polycythemia Vera from secondary polycythemia: a prospect for novel diagnostic marker.
- Iatrogenic Post-Surgical Cyanosis Due to Vena Caval Redirection to the Left Atrium and Its Transcatheter Management.
- The Utility of Serum Free Testosterone Concentrations in Monitoring Gender-Affirming Testosterone Therapy in Transmasculine Youth with Obesity.
- Analysis of Blood Group Antigens as Risk Factors for Thrombosis in Polycythemia Vera Patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98428(Orphanet)
- MONDO:0020115(MONDO)
- GARD:19467(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q18555212(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
