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Paroxysmal Nocturnal Hemoglobinuria(PNH)

Paroxysmal Nocturnal Hemoglobinuria(PNH)

Last Reviewed : 12/24/2020
Paroxysmal Nocturnal Hemoglobinuria(PNH)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's intrinsic immune system. This destructive process is a result of a defect in the formation of surface proteins on the red blood cell, which normally function to inhibit such immune reactions. Since the complement cascade attacks the red blood cells throughout the circulatory system, the hemolysis is considered anintravascular hemolytic anemia. Other key features of the disease, notably the high incidence of thrombosis, are not totally understood.

PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency ofglycophosphatidylinositol leading to absence of protective proteins on the membrane). It may develop on its own ("primary PNH") or in the context of other bone marrow disorders such as aplastic anemia ("secondary PNH"). Only a minority (26%) have the telltale red urine in the morning that originally gave the condition its name.

Allogeneic bone marrow transplantation is the only curative therapy, but has significant rates of both mortality and ongoing morbidity. The monoclonal antibody eculizumab is effective at reducing the need for blood transfusions and improving quality of life. It, however, does not appear to change the risk of death or blood clots and has an extremely high price, with a single year of treatment costing at least $440,000.

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.

 

Basic information:

https://medlineplus.gov/ency/article/000534.htm medline plus paroxysmal nocturnal hemoglobinuria

http://www.webmd.com/a-to-z-guides/paroxysmal-nocturnal-hemoglobinuria-pnh web md paroxysmal nocturnal hemoglobinuria

http://www.healthline.com/health/paroxysmal-nocturnal-hemoglobinuria-pnh health line paroxysmal nocturnal hemoglobinuria

http://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/paroxysmal-nocturnal-hemoglobinuria-pnh merck manuals(professional version) paroxysmal nocturnal hemoglobinuria

http://umm.edu/health/medical/ency/articles/paroxysmal-nocturnal-hemoglobinuria-pnh university of maryland medical center paroxysmal nocturnal hemoglobinuria

 

Advanced information:

http://emedicine.medscape.com/article/207468-overview medscape paroxysmal nocturnal hemoglobinuria

https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria#genes genomic home research paroxysmal nocturnal hemoglobinuria

http://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/ national organisation of rare diseases paroxysmal nocturnal hemoglobinuria

http://patient.info/doctor/paroxysmal-nocturnal-haemoglobinuria patient paroxysmal nocturnal hemoglobinuria

http://www.dovemed.com/diseases-conditions/paroxysmal-nocturnal-hemoglobinuria/ dove med paroxysmal nocturnal hemoglobinuria

 

Research:

http://asheducationbook.hematologylibrary.org/content/2011/1/21.full management of paroxysmal nocturnal hemoglobinuria in the era of complement inhibitory therapy by charles j. parker doi:10.1182/asheducation-2011.1.21ash education bookdecember 10, 2011vol. 2011 no. 1 21-29

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1516-84842015000200090 rev. bras. hematol. hemoter. vol.37 no.2 são paulo apr. 2015 http://dx.doi.org/10.1016/j.bjhh.2015.01.001 original articles:paroxysmal nocturnal hemoglobinuria clone in 103 brazilian patients: diagnosis and classi?cation by ana paula de azambuja et al.,

http://www.annclinlabsci.org/content/33/4/401.full laboratory diagnosis of paroxysmal nocturnal hemoglobinuria by jonathan s krauss ann clin lab sci fall 2003 vol. 33 no. 4 401-406

parab r b. paroxysmal nocturnal hemoglobinuria: a study of 17 cases. j postgrad med [serial online] 1990 [cited 2016 jul 16];36:23. available from: http://www.jpgmonline.com/text.asp?1990/36/1/23/878

http://www.nejm.org/doi/full/10.1056/nejmoa061648#t=article the complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria by peter hillmen, m.b., ch.b., ph.d. et al., n engl j med 2006; 355:1233-1243september 21, 2006doi: 10.1056/nejmoa061648

http://www.bloodjournal.org/content/106/12/3699?sso-checked=true diagnosis and management of paroxysmal nocturnal hemoglobinuria by charles parker, mitsuhiro omine, stephen richards, jun-ichi nishimura, monica bessler, russell ware, peter hillmen, lucio luzzatto, neal young, taroh kinoshita,wendell rosse, gerard socié blood 2005 106:3699-3709; doi:10.1182/blood-2005-04-1717

http://www.bloodjournal.org/content/124/18/2804 paroxysmal nocturnal hemoglobinuria by robert a. brodsky blood 2014 124:2804-2811; doi:10.1182/blood-2014-02-522128

gupta p k, charan v d, kumar h. pnh revisited: clinical profile, laboratory diagnosis and follow-up. indian j pathol microbiol [serial online] 2009 [cited 2016 jul 14];52:38-41. available from: http://www.ijpmonline.org/text.asp?2009/52/1/38/44960

http://www.hindawi.com/journals/crihem/2015/908087/ pusem patir, yakup isik, yigit turk, et al., “necrotizing fasciitis in paroxysmal nocturnal hemoglobinuria,”case reports in hematology, vol. 2015, article id 908087, 5 pages, 2015. doi:10.1155/2015/908087

wijewickrama es, gooneratne l, de silva c, lanarolle rl. acute tubular necrosis in a patient with paroxysmal nocturnal hemoglobinuria. saudi j kidney dis transpl [serial online] 2013 [cited 2016 jul 14];24:105-8. available from: http://www.sjkdt.org/text.asp?2013/24/1/105/106302

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4405271&blobtype=pdf : de cobelli f, pezzetti g, margari s, esposito a, giganti f, agostini g, et al. (2015) new insights in abdominal pain in paroxysmal nocturnal hemoglobinuria (pnh): a mri study. plos one 10(4): e0122832. doi:10.1371/journal.pone.0122832

shrestha gs, poudyal bs, sedain g, mahmud ki, acharya n. cerebral venous thrombosis presenting with intracerebral hemorrhage in a patient with paroxysmal nocturnal hemoglobinuria. indian j crit care med [serial online] 2016 [cited 2016 jul 14];20:117-9. available from: http://www.ijccm.org/text.asp?2016/20/2/117/175948

parab r b. paroxysmal nocturnal hemoglobinuria: a study of 17 cases. j postgrad med [serial online] 1990 [cited 2016 jul 14];36:23. available from: http://www.jpgmonline.com/text.asp?1990/36/1/23/878

http://ehoonline.biomedcentral.com/articles/10.1186/2162-3619-1-26 eculizumab in paroxysmal nocturnal hemoglobinuria with budd-chiari syndrome progressing despite anticoagulation by andrés brodsky et al., experimental hematology & oncology20121:26 doi: 10.1186/2162-3619-1-26

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s0100-879x2001000600010 braz j med biol res vol.34 no.6 ribeirão preto june 2001 http://dx.doi.org/10.1590/s0100-879x2001000600010 braz j med biol res, june 2001, volume 34(6) 763-766 detection of somatic mutations of thepig-a gene in brazilian patients with paroxysmal nocturnal hemoglobinuria by r. franco de carvalho, v.r. arruda, s.t.o. saad and f.f. costa

http://www.hindawi.com/journals/crihem/2012/106182/ radha raghupathy and olga derman, “response of paroxysmal nocturnal hemoglobinuria clone with aplastic anemia to rituximab,” case reports in hematology, vol. 2012, article id 106182, 5 pages, 2012. doi:10.1155/2012/106182

pathare a v, mohanty d. paroxysmal nocturnal haemoglobinuria: the current scenario. j postgrad med [serial online] 1997 [cited 2016 jul 14];43:26. available from: http://www.jpgmonline.com/text.asp?1997/43/1/26/415

agarwal m b, mehta b c. paroxysmal nocturnal hemoglobinuria : (a report of 20 cases). j postgrad med [serial online] 1981 [cited 2016 jul 14];27:231. available from: http://www.jpgmonline.com/text.asp?1981/27/4/231/5626

https://ehoonline.biomedcentral.com/articles/10.1186/2162-3619-1-26 eculizumab in paroxysmal nocturnal hemoglobinuria with budd-chiari syndrome progressing despite anticoagulation by andrés brodsky et al., experimental hematology & oncology20121:26

doi: 10.1186/2162-3619-1-26

 

Other helpful resources(support groups):

http://www.pnhinterestgroup.org/ international pih intrest group

 

Related videos:

https://www.youtube.com/watch?v=jeic5__gnzq the pathophysiology of paroxysmal nocturnal hemoglobinuria - usmle

https://www.youtube.com/watch?v=tjylsu5mxzc paroxysmal nocturnal hemoglobinuria

https://www.youtube.com/watch?v=bb96jy24wpu paroxysmal nocturnal hemoglobinuria: diagnosis and treatment

https://www.youtube.com/watch?v=q3mo1n4sirg paroxysmal nocturnal hemoglobinuria: most important points

https://www.youtube.com/watch?v=qxzamxvdly8 advanced understanding of pnh (paroxysmal nocturnal hemoglobinuria)

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