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Secondary polycythemia

MedGen UID:
231144
•Concept ID:
C1318533
•
Disease or Syndrome
Synonyms: Acquired polycythemia; Secondary erythrocytosis; secondary erythrocytosis; secondary polycythemia
SNOMED CT: Secondary polycythemia (44865000); Secondary erythrocytosis (44865000); Acquired polycythemia (44865000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020115
Orphanet: ORPHA98428

Definition

Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSecondary polycythemia
Follow this link to review classifications for Secondary polycythemia in Orphanet.

Professional guidelines

PubMed

Neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio as new possible minor criteria for diagnosis of polycythemia vera.
Kim MJ, Kwon SS, Ji YS, Lee MY, Kim KH, Lee N, Park SK, Won JH, Yoon SY
Int J Lab Hematol 2023 Dec;45(6):853-859. Epub 2023 Jul 27 doi: 10.1111/ijlh.14138. PMID: 37501518
Incidence, Contributing Factors, and Implications for Clinical Management of Polycythemia in Transmasculine Patients on Testosterone.
Tatarian J, Walcott Q, Richardson K
LGBT Health 2023 Jan;10(1):72-79. Epub 2022 Aug 3 doi: 10.1089/lgbt.2022.0027. PMID: 35920834
Polycythemia: evaluation and management.
Hocking WG, Golde DW
Blood Rev 1989 Mar;3(1):59-65. doi: 10.1016/0268-960x(89)90026-x. PMID: 2650777

Recent clinical studies

Etiology

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.
Cakmak HM, Kartal O, Kocaaga A, Bildirici Y
Pediatr Neonatol 2022 Nov;63(6):613-617. Epub 2022 Aug 6 doi: 10.1016/j.pedneo.2022.06.006. PMID: 36002380
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.
Zhang J, DeMeo DL, Silverman EK, Make BJ, Wade RC, Wells JM, Cho MH, Hobbs BD
BMC Pulm Med 2021 Jul 14;21(1):235. doi: 10.1186/s12890-021-01585-5. PMID: 34261472Free PMC Article
Heavy smoking and liver.
El-Zayadi AR
World J Gastroenterol 2006 Oct 14;12(38):6098-101. doi: 10.3748/wjg.v12.i38.6098. PMID: 17036378Free PMC Article
Congenital polycythemias/erythrocytoses.
Gordeuk VR, Stockton DW, Prchal JT
Haematologica 2005 Jan;90(1):109-16. PMID: 15642677
Health hazards of obesity.
Bray GA
Endocrinol Metab Clin North Am 1996 Dec;25(4):907-19. doi: 10.1016/s0889-8529(05)70361-3. PMID: 8977052

Diagnosis

Secondary erythrocytosis.
Babakhanlou R, Verstovsek S, Pemmaraju N, Rojas-Hernandez CM
Expert Rev Hematol 2023 Apr;16(4):245-251. Epub 2023 Mar 23 doi: 10.1080/17474086.2023.2192475. PMID: 36927204
Polycythemia secondary to renal cysts.
Fasolino J, Oklu R, Palmer J, Hommos MS
J Nephrol 2022 Jul;35(6):1743-1746. Epub 2022 Jan 11 doi: 10.1007/s40620-021-01215-7. PMID: 35013984
Testosterone therapy and secondary erythrocytosis.
White J, Petrella F, Ory J
Int J Impot Res 2022 Nov;34(7):693-697. Epub 2022 Jan 6 doi: 10.1038/s41443-021-00509-5. PMID: 34987178
Polycythemia vera.
Murphy S
Dis Mon 1992 Mar;38(3):153-212. doi: 10.1016/0011-5029(92)90002-7. PMID: 1587207
Secondary polycythemia.
Balcerzak SP, Bromberg PA
Semin Hematol 1975 Oct;12(4):353-82. PMID: 1105791

Therapy

Testosterone therapy and secondary erythrocytosis.
White J, Petrella F, Ory J
Int J Impot Res 2022 Nov;34(7):693-697. Epub 2022 Jan 6 doi: 10.1038/s41443-021-00509-5. PMID: 34987178
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.
Zhang J, DeMeo DL, Silverman EK, Make BJ, Wade RC, Wells JM, Cho MH, Hobbs BD
BMC Pulm Med 2021 Jul 14;21(1):235. doi: 10.1186/s12890-021-01585-5. PMID: 34261472Free PMC Article
Association of subcutaneous testosterone pellet therapy with developing secondary polycythemia.
Rotker KL, Alavian M, Nelson B, Baird GL, Miner MM, Sigman M, Hwang K
Asian J Androl 2018 Mar-Apr;20(2):195-199. doi: 10.4103/aja.aja_51_17. PMID: 29205178Free PMC Article
Heavy smoking and liver.
El-Zayadi AR
World J Gastroenterol 2006 Oct 14;12(38):6098-101. doi: 10.3748/wjg.v12.i38.6098. PMID: 17036378Free PMC Article
Uric acid nephrolithiasis.
Halabe A, Sperling O
Miner Electrolyte Metab 1994;20(6):424-31. PMID: 7783706

Prognosis

Polycythemia Prevalence and Risk Factors in Pilots.
Thanapaisan P, Plaingam M, Manyanont S
Aerosp Med Hum Perform 2024 Sep 1;95(9):683-687. doi: 10.3357/AMHP.6381.2024. PMID: 39169498
Incidence, Contributing Factors, and Implications for Clinical Management of Polycythemia in Transmasculine Patients on Testosterone.
Tatarian J, Walcott Q, Richardson K
LGBT Health 2023 Jan;10(1):72-79. Epub 2022 Aug 3 doi: 10.1089/lgbt.2022.0027. PMID: 35920834
High platelet-to-lymphocyte ratio may differentiate polycythemia vera from secondary polycythemia.
Krečak I, Holik H, Morić Perić M, Zekanović I, Coha B, Gverić-Krečak V, Lucijanić M
Wien Klin Wochenschr 2022 Jun;134(11-12):483-486. Epub 2022 Apr 7 doi: 10.1007/s00508-022-02027-w. PMID: 35391561
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.
Zhang J, DeMeo DL, Silverman EK, Make BJ, Wade RC, Wells JM, Cho MH, Hobbs BD
BMC Pulm Med 2021 Jul 14;21(1):235. doi: 10.1186/s12890-021-01585-5. PMID: 34261472Free PMC Article
Which patients with moderate hypoxemia benefit from long-term oxygen therapy? Ways forward.
Ekström M, Ringbaek T
Int J Chron Obstruct Pulmon Dis 2018;13:231-235. Epub 2018 Jan 9 doi: 10.2147/COPD.S148673. PMID: 29386891Free PMC Article

Clinical prediction guides

Polycythemia Prevalence and Risk Factors in Pilots.
Thanapaisan P, Plaingam M, Manyanont S
Aerosp Med Hum Perform 2024 Sep 1;95(9):683-687. doi: 10.3357/AMHP.6381.2024. PMID: 39169498
Prevalence and diagnostic performance of iron deficiency in polycythemia.
Randrianarisoa RMF, Ramanandafy H, Mania A, Monjanel H, Trouillier S
Hematology 2023 Dec;28(1):2204621. doi: 10.1080/16078454.2023.2204621. PMID: 37115586
Secondary Polycythemia in Men Receiving Testosterone Therapy Increases Risk of Major Adverse Cardiovascular Events and Venous Thromboembolism in the First Year of Therapy.
Ory J, Nackeeran S, Balaji NC, Hare JM, Ramasamy AR
J Urol 2022 Jun;207(6):1295-1301. Epub 2022 Jan 20 doi: 10.1097/JU.0000000000002437. PMID: 35050717
Clinical and Radiological Profile of Cerebrovascular Disease in Polycythemia: Analysis of Neurologic Manifestations from a Tertiary Center in South India.
Bhat V, Gs T, Rao SS, Sarma GRK, Deepalam SK
J Stroke Cerebrovasc Dis 2022 Jan;31(1):106167. Epub 2021 Nov 13 doi: 10.1016/j.jstrokecerebrovasdis.2021.106167. PMID: 34785446
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.
Zhang J, DeMeo DL, Silverman EK, Make BJ, Wade RC, Wells JM, Cho MH, Hobbs BD
BMC Pulm Med 2021 Jul 14;21(1):235. doi: 10.1186/s12890-021-01585-5. PMID: 34261472Free PMC Article

Recent systematic reviews

Cerebral venous thrombosis at high altitude: A systematic review.
Zavanone C, Panebianco M, Yger M, Borden A, Restivo D, Angelini C, Pavone A, Grimod G, Rosso C, Dupont S
Rev Neurol (Paris) 2017 Apr;173(4):189-193. Epub 2016 Dec 27 doi: 10.1016/j.neurol.2016.11.004. PMID: 28038774

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