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Paroxysmal Hemoglobinuria

MedGen UID:
9205
•Concept ID:
C0019050
•
Disease or Syndrome
Synonym: Hemoglobinuria, Paroxysmal

Definition

A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal Hemoglobinuria

Professional guidelines

PubMed

DIFFERENTIAL DIAGNOSIS OF APLASTIC ANEMIA AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA.
YANG TY, YANG HY, CHU HT, NIU C, YUE Y, TSUO TC, CHU HC, SUNG TH
Chin Med J 1963 Nov;82:740-8. PMID: 14079182
Observations on the diagnosis and management of paroxysmal noctural haemoglobinuria: with report of a case.
WANG I, CRAIG J, WALLACE J
Scott Med J 1956 May;1(5):178-83. PMID: 13324179
Treatment of paroxysmal nocturnal hemoglobinuria with ACTH.
KALANT N, DONAT P
Blood 1952 Jun;7(6):607-12. PMID: 14925155

Recent clinical studies

Etiology

Myelodysplastic syndromes.
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.
Hillmen P, Szer J, Weitz I, Röth A, Höchsmann B, Panse J, Usuki K, Griffin M, Kiladjian JJ, de Castro C, Nishimori H, Tan L, Hamdani M, Deschatelets P, Francois C, Grossi F, Ajayi T, Risitano A, Peffault de Latour R
N Engl J Med 2021 Mar 18;384(11):1028-1037. doi: 10.1056/NEJMoa2029073. PMID: 33730455
How I treat paroxysmal nocturnal hemoglobinuria.
Brodsky RA
Blood 2021 Mar 11;137(10):1304-1309. doi: 10.1182/blood.2019003812. PMID: 33512400Free PMC Article
Donath-Landsteiner test.
Kilty M, Ipe TS
Immunohematology 2019 Jan;35(1):3-6. PMID: 30908069
Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study.
Lee JW, Sicre de Fontbrune F, Wong Lee Lee L, Pessoa V, Gualandro S, Füreder W, Ptushkin V, Rottinghaus ST, Volles L, Shafner L, Aguzzi R, Pradhan R, Schrezenmeier H, Hill A
Blood 2019 Feb 7;133(6):530-539. Epub 2018 Dec 3 doi: 10.1182/blood-2018-09-876136. PMID: 30510080Free PMC Article

Diagnosis

Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment.
Szlendak U, Budziszewska B, Spychalska J, Drozd-Sokołowska J, Patkowska E, Nowak J
Pol Arch Intern Med 2022 Jun 29;132(6) Epub 2022 Jun 6 doi: 10.20452/pamw.16271. PMID: 35699625
Autoimmune Hemolytic Anemias.
Berentsen S, Barcellini W
N Engl J Med 2021 Oct 7;385(15):1407-1419. doi: 10.1056/NEJMra2033982. PMID: 34614331
How I treat paroxysmal nocturnal hemoglobinuria.
Brodsky RA
Blood 2021 Mar 11;137(10):1304-1309. doi: 10.1182/blood.2019003812. PMID: 33512400Free PMC Article
Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review.
Devalet B, Mullier F, Chatelain B, Dogné JM, Chatelain C
Eur J Haematol 2015 Sep;95(3):190-8. Epub 2015 Mar 26 doi: 10.1111/ejh.12543. PMID: 25753400
Paroxysmal nocturnal hemoglobinuria.
Brodsky RA
Blood 2014 Oct 30;124(18):2804-11. Epub 2014 Sep 18 doi: 10.1182/blood-2014-02-522128. PMID: 25237200Free PMC Article

Therapy

Oral Iptacopan Monotherapy in Paroxysmal Nocturnal Hemoglobinuria.
Peffault de Latour R, Röth A, Kulasekararaj AG, Han B, Scheinberg P, Maciejewski JP, Ueda Y, de Castro CM, Di Bona E, Fu R, Zhang L, Griffin M, Langemeijer SMC, Panse J, Schrezenmeier H, Barcellini W, Mauad VAQ, Schafhausen P, Tavitian S, Beggiato E, Chew LP, Gaya A, Huang WH, Jang JH, Kitawaki T, Kutlar A, Notaro R, Pullarkat V, Schubert J, Terriou L, Uchiyama M, Wong Lee Lee L, Yap ES, Sicre de Fontbrune F, Marano L, Alashkar F, Gandhi S, Trikha R, Yang C, Liu H, Kelly RJ, Höchsmann B, Kerloeguen C, Banerjee P, Levitch R, Kumar R, Wang Z, Thorburn C, Maitra S, Li S, Verles A, Dahlke M, Risitano AM
N Engl J Med 2024 Mar 14;390(11):994-1008. doi: 10.1056/NEJMoa2308695. PMID: 38477987
Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment.
Szlendak U, Budziszewska B, Spychalska J, Drozd-Sokołowska J, Patkowska E, Nowak J
Pol Arch Intern Med 2022 Jun 29;132(6) Epub 2022 Jun 6 doi: 10.20452/pamw.16271. PMID: 35699625
Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.
Hillmen P, Szer J, Weitz I, Röth A, Höchsmann B, Panse J, Usuki K, Griffin M, Kiladjian JJ, de Castro C, Nishimori H, Tan L, Hamdani M, Deschatelets P, Francois C, Grossi F, Ajayi T, Risitano A, Peffault de Latour R
N Engl J Med 2021 Mar 18;384(11):1028-1037. doi: 10.1056/NEJMoa2029073. PMID: 33730455
How I treat paroxysmal nocturnal hemoglobinuria.
Brodsky RA
Blood 2021 Mar 11;137(10):1304-1309. doi: 10.1182/blood.2019003812. PMID: 33512400Free PMC Article
Paroxysmal nocturnal haemoglobinuria.
Hill A, DeZern AE, Kinoshita T, Brodsky RA
Nat Rev Dis Primers 2017 May 18;3:17028. doi: 10.1038/nrdp.2017.28. PMID: 28516949Free PMC Article

Prognosis

Myelodysplastic syndromes.
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment.
Szlendak U, Budziszewska B, Spychalska J, Drozd-Sokołowska J, Patkowska E, Nowak J
Pol Arch Intern Med 2022 Jun 29;132(6) Epub 2022 Jun 6 doi: 10.20452/pamw.16271. PMID: 35699625
How we('ll) treat paroxysmal nocturnal haemoglobinuria: diving into the future.
Risitano AM, Peffault de Latour R
Br J Haematol 2022 Jan;196(2):288-303. Epub 2021 Aug 5 doi: 10.1111/bjh.17753. PMID: 34355382Free PMC Article
Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria.
Sun L, Babushok DV
Blood 2020 Jul 2;136(1):36-49. doi: 10.1182/blood.2019000940. PMID: 32430502Free PMC Article
Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study.
Lee JW, Sicre de Fontbrune F, Wong Lee Lee L, Pessoa V, Gualandro S, Füreder W, Ptushkin V, Rottinghaus ST, Volles L, Shafner L, Aguzzi R, Pradhan R, Schrezenmeier H, Hill A
Blood 2019 Feb 7;133(6):530-539. Epub 2018 Dec 3 doi: 10.1182/blood-2018-09-876136. PMID: 30510080Free PMC Article

Clinical prediction guides

Myelodysplastic syndromes.
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.
Hillmen P, Szer J, Weitz I, Röth A, Höchsmann B, Panse J, Usuki K, Griffin M, Kiladjian JJ, de Castro C, Nishimori H, Tan L, Hamdani M, Deschatelets P, Francois C, Grossi F, Ajayi T, Risitano A, Peffault de Latour R
N Engl J Med 2021 Mar 18;384(11):1028-1037. doi: 10.1056/NEJMoa2029073. PMID: 33730455
Baseline clinical characteristics and disease burden in patients with paroxysmal nocturnal hemoglobinuria (PNH): updated analysis from the International PNH Registry.
Schrezenmeier H, Röth A, Araten DJ, Kanakura Y, Larratt L, Shammo JM, Wilson A, Shayan G, Maciejewski JP
Ann Hematol 2020 Jul;99(7):1505-1514. Epub 2020 May 10 doi: 10.1007/s00277-020-04052-z. PMID: 32390114Free PMC Article
Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study.
Lee JW, Sicre de Fontbrune F, Wong Lee Lee L, Pessoa V, Gualandro S, Füreder W, Ptushkin V, Rottinghaus ST, Volles L, Shafner L, Aguzzi R, Pradhan R, Schrezenmeier H, Hill A
Blood 2019 Feb 7;133(6):530-539. Epub 2018 Dec 3 doi: 10.1182/blood-2018-09-876136. PMID: 30510080Free PMC Article
The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria.
Hillmen P, Young NS, Schubert J, Brodsky RA, Socié G, Muus P, Röth A, Szer J, Elebute MO, Nakamura R, Browne P, Risitano AM, Hill A, Schrezenmeier H, Fu CL, Maciejewski J, Rollins SA, Mojcik CF, Rother RP, Luzzatto L
N Engl J Med 2006 Sep 21;355(12):1233-43. doi: 10.1056/NEJMoa061648. PMID: 16990386

Recent systematic reviews

Safety and efficacy of danicopan in patients with paroxysmal nocturnal hemoglobinuria: a systematic review and meta-analysis.
Muvaffak E, Mokresh ME, Varda A, Lakmoush M, Ilter MK
Expert Rev Hematol 2024 Nov;17(11):819-831. Epub 2024 Oct 28 doi: 10.1080/17474086.2024.2422558. PMID: 39453029
Complement Inhibition in Paroxysmal Nocturnal Hemoglobinuria (PNH): A Systematic Review and Expert Opinion from Central Europe on Special Patient Populations.
Bodó I, Amine I, Boban A, Bumbea H, Kulagin A, Lukina E, Piekarska A, Zupan IP, Sokol J, Windyga J, Cermak J
Adv Ther 2023 Jun;40(6):2752-2772. Epub 2023 Apr 18 doi: 10.1007/s12325-023-02510-4. PMID: 37072660Free PMC Article
Clinical and epidemiological features of paroxysmal cold hemoglobinuria: a systematic review.
Jacobs JW, Figueroa Villalba CA, Booth GS, Woo JS, Stephens LD, Adkins BD
Blood Adv 2023 Jun 13;7(11):2520-2527. doi: 10.1182/bloodadvances.2022009516. PMID: 36716137Free PMC Article
Efficacy and Safety of Eculizumab for Paroxysmal Nocturnal Hemoglobinuria: A Systematic Review and Meta-Analysis.
Zhou S, Dong X, Chen C, Ma L, Wu Y, Zhou Y, Cui Y
J Pediatr Hematol Oncol 2021 Aug 1;43(6):203-210. doi: 10.1097/MPH.0000000000002178. PMID: 33902068
Defining autoimmune hemolytic anemia: a systematic review of the terminology used for diagnosis and treatment.
Hill QA, Hill A, Berentsen S
Blood Adv 2019 Jun 25;3(12):1897-1906. doi: 10.1182/bloodadvances.2019000036. PMID: 31235526Free PMC Article

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