PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH) SCREENING IN PATIENTS WITH UNEXPLAINED ANEMIA: A SINGLE INSTITUTION EXPERIENCE
(Abstract release date: 05/19/16)
EHA Library. England J. 06/09/16; 132560; E1011
Dr. James England
Contributions
Contributions
Abstract
Abstract: E1011
Type: Eposter Presentation
Background
Referral to hematology for work up and management of anemia is common. Paroxysmal nocturnal hematoglobinuria (PNH) is a clonal disorder in which cells deficient in glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. PNH can present with direct antiglobulin test (DAT) negative hemolysis, thrombosis, unexplained cytopenias, and iron deficiency secondary to ongoing hemolysis. Evaluation for PNH clones is recommended for patients with DAT negative hemolysis or cytopenias that remain unexplained after thorough work up. PNH screening is important to identify patients who could benefit from eculizumab therapy, which improves quality of life and overall survival while reducing hemolysis, transfusion requirement, and thrombosis.
Aims
This study sought to evaluate how frequently patients with unexplained anemia were being screened for PNH.
Methods
The study looked at patients with unexplained anemia referred to hematology at St. Paul’s Hospital between 2010 and 2015. Demographic information, clinical features (including history of arterial/venous blood clots and history of red blood cell [RBC] transfusion), and list of key investigations such as bone marrow biopsy (BMBx) were collected for each patient. Baseline laboratory data relevant to hemolysis were obtained including lactate dehydrogenase (LDH), bilirubin, reticulocyte count, haptoglobin, and DAT testing. Flow cytometry for expression of FLAER, CD24, CD14, and CD59 on neutrophils, monocytes, and RBC was used as high resolution testing of PNH.
Results
A total of 540 patients were included in the study. The study group was comprised of those with anemia not yet diagnosed (NYD, n=318, including 9 with DAT negative hemolysis and 92 with unexplained iron deficiency despite endoscopic gastrointestinal investigation), pancytopenia NYD (n=49), and anemia of chronic disease (n=173). Of these patients 112 (20.7%) underwent BMBx, 48 (8.9%) had a history of RBC transfusion, and 24 (4.4%) had prior thrombosis. For hemolysis investigations, 445 (82.4%) patients had testing done for LDH, 459 (85.0%) for total bilirubin, 425 (78.7%) had reticulocyte counts, and 219 (40.6%) patients had haptoglobin levels done. A total of 131 (24.2%) patients had a suggestion of possible hemolysis based on these measurements. PNH testing was done in 56 (10.4%) patients, corresponding to 12.3% of anemia NYD, 44% of DAT-negative hemolysis, 21.7% of unexplained iron deficiency, 20.4% of pancytopenia NYD, and 4.0% of anemia of chronic disease. One patient with anemia NYD had a positive PNH screen with a small (0.017%) detectable clone of uncertain significance. Compared to those who did not undergo PNH testing, those who were screened for PNH were more likely to have a history of thrombosis (16.1% vs. 3.1%, p=0.0003), underwent BMBx (44.6% vs 18.0%, p=0.0001), received RBC transfusions (21.4% vs. 7.4%, p=0.0018),and to have elevated reticulocytes (26.8% vs. 7.6%, p=0.0001), LDH (25.0% vs. 12.2%, p=0.0126), and low haptoglobin (21.4% vs. 2.9%, p=0.0001).
Conclusion
Anemia is a common referral to hematology, but initial investigations may not uncover a cause. Although hemolytic parameters are evaluated in most patients with unexplained anemia, PNH is tested for only in a minority of cases (10.4%) despite potential indicators of hemolysis in 24.2% of those with unexplained anemia. As effective therapy for PNH is now available, increased screening could identify patients who would benefit from treatment and should be considered.
Session topic: E-poster
Keyword(s): Anemia, Paroxysmal nocturnal hemoglobinuria (PNH), Screening
Type: Eposter Presentation
Background
Referral to hematology for work up and management of anemia is common. Paroxysmal nocturnal hematoglobinuria (PNH) is a clonal disorder in which cells deficient in glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. PNH can present with direct antiglobulin test (DAT) negative hemolysis, thrombosis, unexplained cytopenias, and iron deficiency secondary to ongoing hemolysis. Evaluation for PNH clones is recommended for patients with DAT negative hemolysis or cytopenias that remain unexplained after thorough work up. PNH screening is important to identify patients who could benefit from eculizumab therapy, which improves quality of life and overall survival while reducing hemolysis, transfusion requirement, and thrombosis.
Aims
This study sought to evaluate how frequently patients with unexplained anemia were being screened for PNH.
Methods
The study looked at patients with unexplained anemia referred to hematology at St. Paul’s Hospital between 2010 and 2015. Demographic information, clinical features (including history of arterial/venous blood clots and history of red blood cell [RBC] transfusion), and list of key investigations such as bone marrow biopsy (BMBx) were collected for each patient. Baseline laboratory data relevant to hemolysis were obtained including lactate dehydrogenase (LDH), bilirubin, reticulocyte count, haptoglobin, and DAT testing. Flow cytometry for expression of FLAER, CD24, CD14, and CD59 on neutrophils, monocytes, and RBC was used as high resolution testing of PNH.
Results
A total of 540 patients were included in the study. The study group was comprised of those with anemia not yet diagnosed (NYD, n=318, including 9 with DAT negative hemolysis and 92 with unexplained iron deficiency despite endoscopic gastrointestinal investigation), pancytopenia NYD (n=49), and anemia of chronic disease (n=173). Of these patients 112 (20.7%) underwent BMBx, 48 (8.9%) had a history of RBC transfusion, and 24 (4.4%) had prior thrombosis. For hemolysis investigations, 445 (82.4%) patients had testing done for LDH, 459 (85.0%) for total bilirubin, 425 (78.7%) had reticulocyte counts, and 219 (40.6%) patients had haptoglobin levels done. A total of 131 (24.2%) patients had a suggestion of possible hemolysis based on these measurements. PNH testing was done in 56 (10.4%) patients, corresponding to 12.3% of anemia NYD, 44% of DAT-negative hemolysis, 21.7% of unexplained iron deficiency, 20.4% of pancytopenia NYD, and 4.0% of anemia of chronic disease. One patient with anemia NYD had a positive PNH screen with a small (0.017%) detectable clone of uncertain significance. Compared to those who did not undergo PNH testing, those who were screened for PNH were more likely to have a history of thrombosis (16.1% vs. 3.1%, p=0.0003), underwent BMBx (44.6% vs 18.0%, p=0.0001), received RBC transfusions (21.4% vs. 7.4%, p=0.0018),and to have elevated reticulocytes (26.8% vs. 7.6%, p=0.0001), LDH (25.0% vs. 12.2%, p=0.0126), and low haptoglobin (21.4% vs. 2.9%, p=0.0001).
Conclusion
Anemia is a common referral to hematology, but initial investigations may not uncover a cause. Although hemolytic parameters are evaluated in most patients with unexplained anemia, PNH is tested for only in a minority of cases (10.4%) despite potential indicators of hemolysis in 24.2% of those with unexplained anemia. As effective therapy for PNH is now available, increased screening could identify patients who would benefit from treatment and should be considered.
Session topic: E-poster
Keyword(s): Anemia, Paroxysmal nocturnal hemoglobinuria (PNH), Screening
Abstract: E1011
Type: Eposter Presentation
Background
Referral to hematology for work up and management of anemia is common. Paroxysmal nocturnal hematoglobinuria (PNH) is a clonal disorder in which cells deficient in glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. PNH can present with direct antiglobulin test (DAT) negative hemolysis, thrombosis, unexplained cytopenias, and iron deficiency secondary to ongoing hemolysis. Evaluation for PNH clones is recommended for patients with DAT negative hemolysis or cytopenias that remain unexplained after thorough work up. PNH screening is important to identify patients who could benefit from eculizumab therapy, which improves quality of life and overall survival while reducing hemolysis, transfusion requirement, and thrombosis.
Aims
This study sought to evaluate how frequently patients with unexplained anemia were being screened for PNH.
Methods
The study looked at patients with unexplained anemia referred to hematology at St. Paul’s Hospital between 2010 and 2015. Demographic information, clinical features (including history of arterial/venous blood clots and history of red blood cell [RBC] transfusion), and list of key investigations such as bone marrow biopsy (BMBx) were collected for each patient. Baseline laboratory data relevant to hemolysis were obtained including lactate dehydrogenase (LDH), bilirubin, reticulocyte count, haptoglobin, and DAT testing. Flow cytometry for expression of FLAER, CD24, CD14, and CD59 on neutrophils, monocytes, and RBC was used as high resolution testing of PNH.
Results
A total of 540 patients were included in the study. The study group was comprised of those with anemia not yet diagnosed (NYD, n=318, including 9 with DAT negative hemolysis and 92 with unexplained iron deficiency despite endoscopic gastrointestinal investigation), pancytopenia NYD (n=49), and anemia of chronic disease (n=173). Of these patients 112 (20.7%) underwent BMBx, 48 (8.9%) had a history of RBC transfusion, and 24 (4.4%) had prior thrombosis. For hemolysis investigations, 445 (82.4%) patients had testing done for LDH, 459 (85.0%) for total bilirubin, 425 (78.7%) had reticulocyte counts, and 219 (40.6%) patients had haptoglobin levels done. A total of 131 (24.2%) patients had a suggestion of possible hemolysis based on these measurements. PNH testing was done in 56 (10.4%) patients, corresponding to 12.3% of anemia NYD, 44% of DAT-negative hemolysis, 21.7% of unexplained iron deficiency, 20.4% of pancytopenia NYD, and 4.0% of anemia of chronic disease. One patient with anemia NYD had a positive PNH screen with a small (0.017%) detectable clone of uncertain significance. Compared to those who did not undergo PNH testing, those who were screened for PNH were more likely to have a history of thrombosis (16.1% vs. 3.1%, p=0.0003), underwent BMBx (44.6% vs 18.0%, p=0.0001), received RBC transfusions (21.4% vs. 7.4%, p=0.0018),and to have elevated reticulocytes (26.8% vs. 7.6%, p=0.0001), LDH (25.0% vs. 12.2%, p=0.0126), and low haptoglobin (21.4% vs. 2.9%, p=0.0001).
Conclusion
Anemia is a common referral to hematology, but initial investigations may not uncover a cause. Although hemolytic parameters are evaluated in most patients with unexplained anemia, PNH is tested for only in a minority of cases (10.4%) despite potential indicators of hemolysis in 24.2% of those with unexplained anemia. As effective therapy for PNH is now available, increased screening could identify patients who would benefit from treatment and should be considered.
Session topic: E-poster
Keyword(s): Anemia, Paroxysmal nocturnal hemoglobinuria (PNH), Screening
Type: Eposter Presentation
Background
Referral to hematology for work up and management of anemia is common. Paroxysmal nocturnal hematoglobinuria (PNH) is a clonal disorder in which cells deficient in glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. PNH can present with direct antiglobulin test (DAT) negative hemolysis, thrombosis, unexplained cytopenias, and iron deficiency secondary to ongoing hemolysis. Evaluation for PNH clones is recommended for patients with DAT negative hemolysis or cytopenias that remain unexplained after thorough work up. PNH screening is important to identify patients who could benefit from eculizumab therapy, which improves quality of life and overall survival while reducing hemolysis, transfusion requirement, and thrombosis.
Aims
This study sought to evaluate how frequently patients with unexplained anemia were being screened for PNH.
Methods
The study looked at patients with unexplained anemia referred to hematology at St. Paul’s Hospital between 2010 and 2015. Demographic information, clinical features (including history of arterial/venous blood clots and history of red blood cell [RBC] transfusion), and list of key investigations such as bone marrow biopsy (BMBx) were collected for each patient. Baseline laboratory data relevant to hemolysis were obtained including lactate dehydrogenase (LDH), bilirubin, reticulocyte count, haptoglobin, and DAT testing. Flow cytometry for expression of FLAER, CD24, CD14, and CD59 on neutrophils, monocytes, and RBC was used as high resolution testing of PNH.
Results
A total of 540 patients were included in the study. The study group was comprised of those with anemia not yet diagnosed (NYD, n=318, including 9 with DAT negative hemolysis and 92 with unexplained iron deficiency despite endoscopic gastrointestinal investigation), pancytopenia NYD (n=49), and anemia of chronic disease (n=173). Of these patients 112 (20.7%) underwent BMBx, 48 (8.9%) had a history of RBC transfusion, and 24 (4.4%) had prior thrombosis. For hemolysis investigations, 445 (82.4%) patients had testing done for LDH, 459 (85.0%) for total bilirubin, 425 (78.7%) had reticulocyte counts, and 219 (40.6%) patients had haptoglobin levels done. A total of 131 (24.2%) patients had a suggestion of possible hemolysis based on these measurements. PNH testing was done in 56 (10.4%) patients, corresponding to 12.3% of anemia NYD, 44% of DAT-negative hemolysis, 21.7% of unexplained iron deficiency, 20.4% of pancytopenia NYD, and 4.0% of anemia of chronic disease. One patient with anemia NYD had a positive PNH screen with a small (0.017%) detectable clone of uncertain significance. Compared to those who did not undergo PNH testing, those who were screened for PNH were more likely to have a history of thrombosis (16.1% vs. 3.1%, p=0.0003), underwent BMBx (44.6% vs 18.0%, p=0.0001), received RBC transfusions (21.4% vs. 7.4%, p=0.0018),and to have elevated reticulocytes (26.8% vs. 7.6%, p=0.0001), LDH (25.0% vs. 12.2%, p=0.0126), and low haptoglobin (21.4% vs. 2.9%, p=0.0001).
Conclusion
Anemia is a common referral to hematology, but initial investigations may not uncover a cause. Although hemolytic parameters are evaluated in most patients with unexplained anemia, PNH is tested for only in a minority of cases (10.4%) despite potential indicators of hemolysis in 24.2% of those with unexplained anemia. As effective therapy for PNH is now available, increased screening could identify patients who would benefit from treatment and should be considered.
Session topic: E-poster
Keyword(s): Anemia, Paroxysmal nocturnal hemoglobinuria (PNH), Screening
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