For more information about PNH and how to diagnose it, download the PNH Disease Brochure for Physicians.
Published literature regarding PNH
About PNH
Sharma VR. Paroxysmal nocturnal hemoglobinuria: Pathogenesis, testing, and diagnosis. Clin Adv Hematol Oncol. 2013;11:1-11.
"Optimal disease control requires early intervention and treatment addressing the underlying hemolysis."
Hillmen P, Lewis SM, Bessler M, et al. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333:1253-1258.
Luzzatto L, Gianfaldoni G. Recent advances in biological and clinical aspects of paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2006;84:104-112.
Peffault de Latour R, Mary JY, Salanoubat C, et al; for the French Society of Hematology and the French Association of Young Hematologists. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008;112:3099-3106.
Rachidi S, Musallam KM, Taher AT. A closer look at paroxysmal nocturnal hemoglobinuria. Eur J Intern Med. 2010;21:260-267.
Rosse WF, Hillmen P, Schreiber AD. Immune-mediated hemolytic anemia. Hematology Am Soc Hematol Educ Program. 2004:48-62.
Socié G, Mary JY, de Gramont A, et al; for the French Society of Haematology. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996;348:573-577.
Schrezenmeier H, Muus P, Socié G, et al. Baseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry. Haematologica. 2014;99(5):922-9
Almeida AM, Bedrosian C, Cole A, et al. Clinical benefit of eculizumab in patients with no transfusion history in the International Paroxysmal Nocturnal Haemoglobinuria Registry. Intern Med J. 2017;47(9):1026-1034.
Clinical Manifestations of PNH
Hill A, Kelly RJ, Hillmen P. Thrombosis in paroxysmal nocturnal hemoglobinuria. Blood. 2013;121:4985-4996.
“We can safely say that PNH is the most vicious acquired thrombophilic state known in medicine.”
A retrospective analysis of 301 patients with PNH showing how elevated LDH and common symptoms carry an associated risk for thromboembolism.
Clark DA, Butler SA, Braren V, et al. The kidneys in paroxysmal nocturnal hemoglobinuria. Blood. 1981;57:83-89.
Hill A, Sapsford RJ, Scally A, et al. Under-recognized complications in patients with paroxysmal nocturnal haemoglobinuria: raised pulmonary pressure and reduced right ventricular function. Br J Haematol. 2012;158:409-414.
Rother RP, Bell L, Hillmen P, et al. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293(13):1653-1662.
Weitz IC. Thrombosis in paroxysmal nocturnal hemoglobinuria—insights into the role of complement in thrombosis. Thrombosis Res. 2010;125(suppl 2):S106-S107.
Diagnosis of PNH
A multicenter, prospective study of 3,938 peripheral blood samples, collected from 24 laboratories of the Iberian Society of Cytometry in Spain (n=1,718) and 1 reference laboratory in Brazil (n=2,220), submitted between January 2011 and December 2014 for diagnostic screening of PNH by HSFC. Cases were define as PNH positive when GPI-deficient cells were found in ≥2 different cell lineages (e.g. monocytes and neutrophils) at frequencies ≥0.01%.
NCCN Clinical Practice Guidelines in Oncology. Version 2.2014. National Comprehensive Cancer Network: Myelodysplastic syndromes.
http://www.nccn.org/professionals/physician_gls/pdf/mds.pdf. Accessed March 18, 2014.
Parker C, Dezern AE, Borowitz MJ. ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 1 - clinical utility. Cytometry B Clin Cytom. 2018;94(1):16-22.
Dezern AE, Borowitz MJ. ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 1 - clinical utility. Cytometry B Clin Cytom. 2018;94(1):16-22.
Sutherland DR, Illingworth A, Marinov I, et al. ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 2 - reagent selection and assay optimization for high-sensitivity testing. Cytometry B Clin Cytom. 2018;94(1):23-48.
Illingworth A, Marinov I, Sutherland DR, et al. ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 3 - data analysis, reporting and case studies. Cytometry B Clin Cytom. 2018;94(1):49-66.
Oldaker T, Whitby L, Saber M, et al. ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 4 - assay validation and quality assurance. Cytometry B Clin Cytom. 2018;94(1):67-81.
Borowitz MJ, Craig FE, Digiuseppe JA, et al. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom. 2010;78(4):211-230.
Care of PNH
Results of a study on the long-term management of PNH. Between May 2002 and July 2010, 79 patients with a confirmed diagnosis of PNH were studied.
Brodsky RA. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev. 2008;22:65-74.
Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007;137:181-192.
Hillmen P, Muus P, Röth A, et al. Br J Haematol. 2013;162:62-73.
Richards SJ, Hill A, Hillmen P. Recent advances in the diagnosis, monitoring, and management of patients with paroxysmal nocturnal hemoglobinuria. Cytometry Part B. 2007;72:291-298.
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