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PNH: Diagnosis and Testing
Evaluate High-Risk Patient Populations for PNH1
Symptomatology common to many diseases, as well as the rarity of PNH, may delay diagnosis. But because the disease can result in serious clinical sequelae when chronic hemolysis is not controlled, early diagnosis is crucial.
Who to Test for PNH
PNH Consensus Guidelines and the International PNH Interest Group recommend continued monitoring of patient populations at higher risk for PNH. Populations include: Coombs-negative hemolytic anemia, hemoglobinuria, aplastic anemia, refractory anemia-myelodysplastic syndrome, unexplained cytopenias, and unexplained thrombosis.1,2
Full Clinical Assessment
Classical PNH can be confused with autoimmune hemolytic anemia or congenital hemolytic anemias.3 PNH symptoms can change over time, and measuring lactate dehydrogenase (LDH) activity will provide a more complete clinical picture of PNH.4-6 In patients at high risk for PNH flow cytometry should be performed.
Flow Cytometry for Hematopathologists
Detection of PNH clones by flow cytometry, via peripheral blood, is the gold standard diagnostic test for PNH. Flow cytometry provides the most consistent and sensitive method of testing for PNH.2
1. Parker C, Omine M, Richards S, et al; for the International PNH Interest Group. Blood. 2005;106:3699-3709. 2. Borowitz MJ, Craig FE, DiGiuseppe JA, et al; for Clinical Cytometry Society. Cytometry Part B Clin Cytom. Doi:10. 1002/cyto.b.20525. 3. Rosse WF. Paroxysmal Nocturnal Hemoglobinuria. Orphanet Encyclopedia. December 2004. Available at: http://www.orpha.net/data/patho/GB/uk-PNH.pdf. 4. de Castro CM. Annapolis, MD: Aplastic Anemia & MDS International Foundation;2006. 5. Parker C, Omine M, Richards S, et al; for the International PNH Interest Group. Blood. 2005;106:3699-3709. 6. Rother RP, Bell L, Hillmen P, Gladwin MT. JAMA. 2005;293:1653-1662.
The most sensitive and informative test to diagnose PNH.
Treatment options for PNH include monoclonal antibodies, bone marrow transplantation, and palliative therapies.