The natural history of paroxysmal nocturnal haemoglobinuria (PNH) is not really known, probably because of its rarity. Further, the advent of specific treatment will probably alter the natural history of the disease.[28]Kelly RJ, Hill A, Arnold LM, et al. Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival. Blood. 2011 Jun 23;117(25):6786-92.
http://www.bloodjournal.org/content/117/25/6786.long
http://www.ncbi.nlm.nih.gov/pubmed/21460245?tool=bestpractice.com
Most studies in the US or Europe show a median post-diagnosis life-span of 10 to 15 years.[11]Hillmen P, Lewis SM, Bessler M, et al. Natural history of paroxysmal nocturnal haemoglobinuria. New Engl J Med. 1995 Nov 9;333(19):1253-8.
http://www.nejm.org/doi/full/10.1056/NEJM199511093331904#t=article
http://www.ncbi.nlm.nih.gov/pubmed/7566002?tool=bestpractice.com
[18]Nishimura J, Kanakura Y, Ware RE, et al. Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore). 2004 May;83(3):193-207.
http://www.ncbi.nlm.nih.gov/pubmed/15118546?tool=bestpractice.com
[23]Socie G, Mary JY, de Gramont A, et al. Paroxysmal nocturnal haemoglobinuria: long term follow-up and prognostic factors. Lancet. 1996;348:573-577.
http://www.ncbi.nlm.nih.gov/pubmed/8774569?tool=bestpractice.com
This may be longer in East Asian populations, as these populations have markedly less incidence of thrombosis, the worst prognostic complication seen among Europeans. Uncommonly, the PNH clone may spontaneously disappear.[11]Hillmen P, Lewis SM, Bessler M, et al. Natural history of paroxysmal nocturnal haemoglobinuria. New Engl J Med. 1995 Nov 9;333(19):1253-8.
http://www.nejm.org/doi/full/10.1056/NEJM199511093331904#t=article
http://www.ncbi.nlm.nih.gov/pubmed/7566002?tool=bestpractice.com
[18]Nishimura J, Kanakura Y, Ware RE, et al. Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore). 2004 May;83(3):193-207.
http://www.ncbi.nlm.nih.gov/pubmed/15118546?tool=bestpractice.com
PNH in the setting of aplastic anaemia
The clinical course may be determined by the degree and responsiveness of aplastic anaemia. The incidence of thrombosis and overall survival among Western patients do not seem to be different if there is a prior history of aplastic anaemia.[15]de Latour RP, Mary JY, Salanoubat C, et al. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008 Oct 15;112(8):3099-106.
http://www.bloodjournal.org/content/112/8/3099.full
http://www.ncbi.nlm.nih.gov/pubmed/18535202?tool=bestpractice.com
Subclinical PNH
Patients who present with subclinical PNH do not typically progress to clinical PNH. In 80% of cases where glycosylphosphatidylinositol-anchored proteins (GPI-AP)-deficient cells are detected in the setting of bone marrow failure, these cells make up <1% of total circulating granulocytes. These patients have no clinical or biochemical evidence of haemolysis and do not require specific treatment for PNH.[2]Parker CJ. Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. ASH Education Book 2016;2016(1):208-16.
https://ashpublications.org/hematology/article/2016/1/208/21101/Update-on-the-diagnosis-and-management-of
http://www.ncbi.nlm.nih.gov/pubmed/27913482?tool=bestpractice.com