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Polycythemia

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
Synonyms: Polycythaemia; Polycythemia (disease)
SNOMED CT: Erythrocythemia (109992005); Polycythemia (127062003)
 
HPO: HP:0001901
Monarch Initiative: MONDO:0005571
Orphanet: ORPHA98427

Definition

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Deficiency of cytochrome-b5 reductase
MedGen UID:
75661
Concept ID:
C0268193
Disease or Syndrome
Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).
Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Deficiency of bisphosphoglycerate mutase
MedGen UID:
489898
Concept ID:
C1291620
Disease or Syndrome
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
ABCD syndrome
MedGen UID:
333014
Concept ID:
C1838099
Disease or Syndrome
ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Pyruvate kinase hyperactivity
MedGen UID:
350114
Concept ID:
C1863224
Disease or Syndrome
Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997).
Erythrocytosis, familial, 4
MedGen UID:
435867
Concept ID:
C2673187
Disease or Syndrome
Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
MedGen UID:
412958
Concept ID:
C2750442
Disease or Syndrome
Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A movement disorder resulting from manganese accumulation in the basal ganglia. Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L). Polycythemia. Hepatomegaly with variable hepatic fibrosis/cirrhosis. Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia, leading to a characteristic high-stepping gait ("cock-walk gait"), dysarthria, fine tremor, and bradykinesia or on occasion spastic paraplegia; or in adulthood as parkinsonism (shuffling gait, rigidity, bradykinesia, hypomimia, and monotone speech) unresponsive to L-dopa treatment.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Erythrocytosis, familial, 5
MedGen UID:
1638941
Concept ID:
C4693552
Disease or Syndrome
Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Erythrocytosis, familial, 6
MedGen UID:
1634191
Concept ID:
C4693822
Disease or Syndrome
Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant.
Erythrocytosis, familial, 7
MedGen UID:
1642594
Concept ID:
C4693823
Disease or Syndrome
Familial erythrocytosis-7 (ECYT7) is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see 617980).

Professional guidelines

PubMed

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Tefferi A, Barbui T
Am J Hematol 2020 Dec;95(12):1599-1613. Epub 2020 Oct 23 doi: 10.1002/ajh.26008. PMID: 32974939

Recent clinical studies

Etiology

Tefferi A, Vannucchi AM, Barbui T
Leukemia 2021 Dec;35(12):3339-3351. Epub 2021 Sep 3 doi: 10.1038/s41375-021-01401-3. PMID: 34480106Free PMC Article
Fox S, Griffin L, Robinson Harris D
Am Fam Physician 2021 Jun 1;103(11):680-687. PMID: 34060791
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
McMullin MF, Harrison CN, Ali S, Cargo C, Chen F, Ewing J, Garg M, Godfrey A, S SK, McLornan DP, Nangalia J, Sekhar M, Wadelin F, Mead AJ; BSH Committee
Br J Haematol 2019 Jan;184(2):176-191. Epub 2018 Nov 27 doi: 10.1111/bjh.15648. PMID: 30478826

Diagnosis

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
Gangat N, Szuber N, Pardanani A, Tefferi A
Leukemia 2021 Aug;35(8):2166-2181. Epub 2021 May 21 doi: 10.1038/s41375-021-01290-6. PMID: 34021251Free PMC Article
Spivak JL
Blood 2019 Jul 25;134(4):341-352. Epub 2019 May 31 doi: 10.1182/blood.2018834044. PMID: 31151982
Parnes A, Ravi A
Prim Care 2016 Dec;43(4):589-605. doi: 10.1016/j.pop.2016.07.011. PMID: 27866579
Marvi MM, Lew MF
Handb Clin Neurol 2011;100:271-6. doi: 10.1016/B978-0-444-52014-2.00019-7. PMID: 21496586

Therapy

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Gisslinger H, Klade C, Georgiev P, Krochmalczyk D, Gercheva-Kyuchukova L, Egyed M, Rossiev V, Dulicek P, Illes A, Pylypenko H, Sivcheva L, Mayer J, Yablokova V, Krejcy K, Grohmann-Izay B, Hasselbalch HC, Kralovics R, Kiladjian JJ; PROUD-PV Study Group
Lancet Haematol 2020 Mar;7(3):e196-e208. Epub 2020 Jan 31 doi: 10.1016/S2352-3026(19)30236-4. PMID: 32014125
Tefferi A, Barbui T
Am J Hematol 2019 Jan;94(1):133-143. Epub 2018 Nov 9 doi: 10.1002/ajh.25303. PMID: 30281843
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178

Prognosis

Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Gisslinger H, Klade C, Georgiev P, Krochmalczyk D, Gercheva-Kyuchukova L, Egyed M, Rossiev V, Dulicek P, Illes A, Pylypenko H, Sivcheva L, Mayer J, Yablokova V, Krejcy K, Grohmann-Izay B, Hasselbalch HC, Kralovics R, Kiladjian JJ; PROUD-PV Study Group
Lancet Haematol 2020 Mar;7(3):e196-e208. Epub 2020 Jan 31 doi: 10.1016/S2352-3026(19)30236-4. PMID: 32014125
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178
Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA
Eur J Haematol 2014 Apr;92(4):289-97. Epub 2014 Feb 3 doi: 10.1111/ejh.12256. PMID: 24372927
Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi AM, Rodeghiero F, Randi ML, Vaidya R, Cazzola M, Rambaldi A, Gisslinger B, Pieri L, Ruggeri M, Bertozzi I, Sulai NH, Casetti I, Carobbio A, Jeryczynski G, Larson DR, Müllauer L, Pardanani A, Thiele J, Passamonti F, Barbui T
Leukemia 2013 Sep;27(9):1874-81. Epub 2013 Jun 6 doi: 10.1038/leu.2013.163. PMID: 23739289Free PMC Article

Clinical prediction guides

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Guglielmelli P, Vannucchi AM
Blood Rev 2020 Jul;42:100714. Epub 2020 Jun 3 doi: 10.1016/j.blre.2020.100714. PMID: 32546373
Tefferi A, Guglielmelli P, Lasho TL, Coltro G, Finke CM, Loscocco GG, Sordi B, Szuber N, Rotunno G, Pacilli A, Hanson CA, Ketterling RP, Pardanani A, Gangat N, Vannucchi AM
Br J Haematol 2020 Apr;189(2):291-302. Epub 2020 Jan 16 doi: 10.1111/bjh.16380. PMID: 31945802
Tefferi A, Pardanani A
JAMA Oncol 2015 Apr;1(1):97-105. doi: 10.1001/jamaoncol.2015.89. PMID: 26182311

Recent systematic reviews

Appeldoorn TYJ, Munnink THO, Morsink LM, Hooge MNL, Touw DJ
Clin Pharmacokinet 2023 Apr;62(4):559-571. Epub 2023 Mar 31 doi: 10.1007/s40262-023-01225-7. PMID: 37000342Free PMC Article
Nurgat Z, Lawrence M
J Oncol Pharm Pract 2022 Sep;28(6):1400-1410. Epub 2022 Mar 16 doi: 10.1177/10781552221082293. PMID: 35296179
Sayar Z, Nallamilli S, Efthymiou M, Lambert J, Cohen H
Lupus 2021 Aug;30(9):1502-1508. Epub 2021 Jul 1 doi: 10.1177/09612033211021154. PMID: 34192956
Twitchell DK, Pastuszak AW, Khera M
Sex Med Rev 2021 Jan;9(1):149-159. Epub 2020 Dec 9 doi: 10.1016/j.sxmr.2020.09.004. PMID: 33309270
Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W
Am J Obstet Gynecol 2018 Jan;218(1):1-18. Epub 2017 Oct 30 doi: 10.1016/j.ajog.2017.10.231. PMID: 29097178

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