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==Overview==
==Overview==
Laboratory findings consistent with the diagnosis of paroxysmal nocturnal hemoglobinuria include low hemoglobin level, low RBCs count, and negative coombs test. Flow cytometry is the diagnostic test of choice where it shows GPI deficient RBCs.
==Laboratory Findings==
==Laboratory Findings==
* PNH can present with or as other disease entities such as aplastic anemia or myelodysplasia (MDS).  Patients who present with pancytopenia or thrombosis compounding anemia should be suspected of having PNH. Many patients with bone marrow failure ([[aplastic anemia]]) develop [[PNH]](10-33%). Aplastic anemia can be caused by an attack by the immune system against the bone marrow. For this reason, drugs that suppress the immune system are being researched as a therapy for PNH.<ref>Sacher, Ronald A. and Richard A. McPherson. "Wildman's Clinical Interpretation of Laboratory Tests, 11th edition."</ref> <ref>Kumar, Vinay, Abu Abbas, and Nelson Fausto. "Robbins and Cotran Pathologic Basis of Disease, 7th edition."</ref>  A small percentage of PNH patients can have dysplasia that leads to Acute Myelocytic Leukemia.  Interestingly, the blasts of the PNH-derived AML also lack leukocyte alkaline phosphatase (LAP) and decay accelerating factor (CD59;DAF). 


*'''Ham's acid hemolysis test''': A sugar or sucrose lysis test, in which a patient's red blood cells are placed in low ionic strength solution and observed for hemolysis, is used for screening. A more specific test for PNH, called ''Ham's acid hemolysis'' test, is performed if the sugar test is positive for hemolysis.<ref>Ham TH. Chronic haemolytic anaemia with paroxysmal nocturnal haemoglobinuria: study of the mechanism of haemolysis in relation to acid-base equilibrium. ''[[N Engl J Med]]'' 1937;217:915-918.</ref> In a positive sucrose lysis test ionic strength facilitates the complement binding whereas in a positive Ham acid hemolysis test acidic strength facilitates the complement binding.  The differential diagnosis of a positive sugar lysis test includes some autoimmune hemolytic anemias; even leukemias can give a false positive result.  The differential diagnosis for a positive Ham test includes congenital dyserythropoietic anemia; note that a negative Ham test doesn't rule out PNH.  These assays do not reliably quantitate the percentage of PNH cells and can be falsely negative in patients who have received red blood cell transfusions. Occasionally the characteristic complement-sensitive erythrocytes cannot be demonstrated in patients with well-established PNH. This probably occurs when the production of PNH cells is relatively low and most of the PNH cells that have been made have already been destroyed either in the marrow or in the circulation.  Therefore a single normal sucrose hemolysis test cannot be considered absolute evidence that a patient does not have PNH.  
Laboratory findings consistent with the diagnosis of PNH include:
* Due to hemolysis:
*# Low hemoglobin
*# Low RBC count
*# Increased reticulocyte count
*# Increased LDH
*# Increased bilirubin
*# Decreased haptoglobin
*# Haemoglobinuria
*# Negative coombs test  
 
* Due to haemoglobinuria:
*# Urinalysis: positive dipstick for heme with negative microscopic analysis for RBC
*# Increased creatinine
*# Increased BUN
*# Iron deficiency: low iron, low ferritin, increased transferrin or TIBC
 
* Due to thrombosis:
*# Thrombocytopenia
*# Elevated liver function test
 
*Flow cytometry is the diagnostic study of choice to diagnose PNH. In PNH, flow cytometry shows decreased expression of GPI anchor on the RBCs surfaces.<ref name="pmid25237200">{{cite journal| author=Brodsky RA| title=Paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2014 | volume= 124 | issue= 18 | pages= 2804-11 | pmid=25237200 | doi=10.1182/blood-2014-02-522128 | pmc=4215311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25237200  }} </ref>
 
*Other diagnostic studies not required for diagnosis include:
** Bone marrow biopsy in cases of pancytopenia it may show hypocellular or normocellular marrow.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Disease]]
[[Category:Hematology]]
[[Category:Rare diseases]]
[[Category:Genetic disorders]]
[[Category:Mature chapter]]


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Latest revision as of 20:02, 18 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Laboratory findings consistent with the diagnosis of paroxysmal nocturnal hemoglobinuria include low hemoglobin level, low RBCs count, and negative coombs test. Flow cytometry is the diagnostic test of choice where it shows GPI deficient RBCs.

Laboratory Findings

Laboratory findings consistent with the diagnosis of PNH include:

  • Due to hemolysis:
    1. Low hemoglobin
    2. Low RBC count
    3. Increased reticulocyte count
    4. Increased LDH
    5. Increased bilirubin
    6. Decreased haptoglobin
    7. Haemoglobinuria
    8. Negative coombs test
  • Due to haemoglobinuria:
    1. Urinalysis: positive dipstick for heme with negative microscopic analysis for RBC
    2. Increased creatinine
    3. Increased BUN
    4. Iron deficiency: low iron, low ferritin, increased transferrin or TIBC
  • Due to thrombosis:
    1. Thrombocytopenia
    2. Elevated liver function test
  • Flow cytometry is the diagnostic study of choice to diagnose PNH. In PNH, flow cytometry shows decreased expression of GPI anchor on the RBCs surfaces.[1]
  • Other diagnostic studies not required for diagnosis include:
    • Bone marrow biopsy in cases of pancytopenia it may show hypocellular or normocellular marrow.

References

  1. ↑ Brodsky RA (2014). "Paroxysmal nocturnal hemoglobinuria". Blood. 124 (18): 2804–11. doi:10.1182/blood-2014-02-522128. PMC 4215311. PMID 25237200.

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