PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: CLINICAL FEATURES AND OUTCOME IN 124 PATIENTS EVALUATED IN A SINGLE CENTER
(Abstract release date: 05/19/16)
EHA Library. ZANICHELLI m. 06/09/16; 132960; E1411
Dr. maria aparecida ZANICHELLI
Contributions
Contributions
Abstract
Abstract: E1411
Type: Eposter Presentation
Background
The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.
Aims
The objective of this study was to describe the clinical features at diagnosis and outcome of PNH patients followed-up at a single institution.
Methods
Demographic, clinical, haematological and biochemical data were collected from patients followed-up at the our centre. The diagnosis of PNH was established using flow cytometry.
Results
880 patients were tested for PNH. A hundred forty patients had PNH clone. Of these, 124 had complete records and were included in this study (61 male and 63 female). The median age at diagnosis was 29.5 years (range 10-72). Ninety one patients (74%) had a previous diagnosis of Aplastic Anemia, 5 patients had MDS (4%) and 28 (22.5%) patients had classical PNH. The most common symptom at diagnosis was fatigue present in 109 patients (88%). 63/124 (51%) had bleeding and / or hemorrhagic suffusion, 18 (14%) jaundice, 23 (18%) hemoglobinuria, 13 (10%) abdominal pain, 11 (9%) thrombosis, 4 (3%) renal failure and 34 (27%) fever / infection. Median hemoglobin at diagnosis was 7.9 (2.6 to 14.0), median neutrophils / mm3 was 1.050 (100-8400) and median platelet 21,500 / mm3 (1000-494000). 55/124 (44%) had LDH> 1.5 times or more the upper limit of normal. Fifty one (41%) patients had PNH clone> 50% in granulocytes. During evolution 31/124 (25%) patients had thrombosis, 33/124 (27%) had hemoglobinuria and 15/124 (12%) had renal failure. Patients with classical PNH received supportive treatment with red blood cell transfusions, folic acid, prophylactic anticoagulant (14 patients with PNH clone> 50%) and long-term anticoagulation (31 patients with thrombosis). Two patients have been treated with eculizumab. 23/80 (28.6%) patients with AA/PNH have undergone bone marrow transplantation and the others (n = 57) were immunosuppressed with cyclosporine and antithymocitic globulin. 15/57 patients after immunosuppressive treatment, developed in a median period of 3.4 years (2-11 years), large clones (> 50%) behaving like classical PNH. In this period 8 patients with classical PNH died. The causes of death were thrombosis in 4 patients and infection in the others.
Conclusion
This study has a limitation because it was retrospective. Despite of that our results are similar to those found in the literature except in the occurrence of abdominal pain (less than expected). Eculizumab is not available for all patients in our centre. Because of that we have prophylactically anticoagulated patients with PNH clone above 50% and no contraindications for the procedure.
Session topic: E-poster
Keyword(s): Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria (PNH)
Type: Eposter Presentation
Background
The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.
Aims
The objective of this study was to describe the clinical features at diagnosis and outcome of PNH patients followed-up at a single institution.
Methods
Demographic, clinical, haematological and biochemical data were collected from patients followed-up at the our centre. The diagnosis of PNH was established using flow cytometry.
Results
880 patients were tested for PNH. A hundred forty patients had PNH clone. Of these, 124 had complete records and were included in this study (61 male and 63 female). The median age at diagnosis was 29.5 years (range 10-72). Ninety one patients (74%) had a previous diagnosis of Aplastic Anemia, 5 patients had MDS (4%) and 28 (22.5%) patients had classical PNH. The most common symptom at diagnosis was fatigue present in 109 patients (88%). 63/124 (51%) had bleeding and / or hemorrhagic suffusion, 18 (14%) jaundice, 23 (18%) hemoglobinuria, 13 (10%) abdominal pain, 11 (9%) thrombosis, 4 (3%) renal failure and 34 (27%) fever / infection. Median hemoglobin at diagnosis was 7.9 (2.6 to 14.0), median neutrophils / mm3 was 1.050 (100-8400) and median platelet 21,500 / mm3 (1000-494000). 55/124 (44%) had LDH> 1.5 times or more the upper limit of normal. Fifty one (41%) patients had PNH clone> 50% in granulocytes. During evolution 31/124 (25%) patients had thrombosis, 33/124 (27%) had hemoglobinuria and 15/124 (12%) had renal failure. Patients with classical PNH received supportive treatment with red blood cell transfusions, folic acid, prophylactic anticoagulant (14 patients with PNH clone> 50%) and long-term anticoagulation (31 patients with thrombosis). Two patients have been treated with eculizumab. 23/80 (28.6%) patients with AA/PNH have undergone bone marrow transplantation and the others (n = 57) were immunosuppressed with cyclosporine and antithymocitic globulin. 15/57 patients after immunosuppressive treatment, developed in a median period of 3.4 years (2-11 years), large clones (> 50%) behaving like classical PNH. In this period 8 patients with classical PNH died. The causes of death were thrombosis in 4 patients and infection in the others.
Conclusion
This study has a limitation because it was retrospective. Despite of that our results are similar to those found in the literature except in the occurrence of abdominal pain (less than expected). Eculizumab is not available for all patients in our centre. Because of that we have prophylactically anticoagulated patients with PNH clone above 50% and no contraindications for the procedure.
Session topic: E-poster
Keyword(s): Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria (PNH)
Abstract: E1411
Type: Eposter Presentation
Background
The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.
Aims
The objective of this study was to describe the clinical features at diagnosis and outcome of PNH patients followed-up at a single institution.
Methods
Demographic, clinical, haematological and biochemical data were collected from patients followed-up at the our centre. The diagnosis of PNH was established using flow cytometry.
Results
880 patients were tested for PNH. A hundred forty patients had PNH clone. Of these, 124 had complete records and were included in this study (61 male and 63 female). The median age at diagnosis was 29.5 years (range 10-72). Ninety one patients (74%) had a previous diagnosis of Aplastic Anemia, 5 patients had MDS (4%) and 28 (22.5%) patients had classical PNH. The most common symptom at diagnosis was fatigue present in 109 patients (88%). 63/124 (51%) had bleeding and / or hemorrhagic suffusion, 18 (14%) jaundice, 23 (18%) hemoglobinuria, 13 (10%) abdominal pain, 11 (9%) thrombosis, 4 (3%) renal failure and 34 (27%) fever / infection. Median hemoglobin at diagnosis was 7.9 (2.6 to 14.0), median neutrophils / mm3 was 1.050 (100-8400) and median platelet 21,500 / mm3 (1000-494000). 55/124 (44%) had LDH> 1.5 times or more the upper limit of normal. Fifty one (41%) patients had PNH clone> 50% in granulocytes. During evolution 31/124 (25%) patients had thrombosis, 33/124 (27%) had hemoglobinuria and 15/124 (12%) had renal failure. Patients with classical PNH received supportive treatment with red blood cell transfusions, folic acid, prophylactic anticoagulant (14 patients with PNH clone> 50%) and long-term anticoagulation (31 patients with thrombosis). Two patients have been treated with eculizumab. 23/80 (28.6%) patients with AA/PNH have undergone bone marrow transplantation and the others (n = 57) were immunosuppressed with cyclosporine and antithymocitic globulin. 15/57 patients after immunosuppressive treatment, developed in a median period of 3.4 years (2-11 years), large clones (> 50%) behaving like classical PNH. In this period 8 patients with classical PNH died. The causes of death were thrombosis in 4 patients and infection in the others.
Conclusion
This study has a limitation because it was retrospective. Despite of that our results are similar to those found in the literature except in the occurrence of abdominal pain (less than expected). Eculizumab is not available for all patients in our centre. Because of that we have prophylactically anticoagulated patients with PNH clone above 50% and no contraindications for the procedure.
Session topic: E-poster
Keyword(s): Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria (PNH)
Type: Eposter Presentation
Background
The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.The Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by intravascular hemolytic anemia, thrombotic phenomena and marrow failure. It is caused by a somatic mutation in the phosphatidylinositol glycan class A (PIG-A) X-linked gene, responsible for a deficiency in GPI-anchored proteins (GPI-AP). The lack of the GPI-AP complement regulatory proteins (CD55 and CD59) leads to the main manifestations of the disease.
Aims
The objective of this study was to describe the clinical features at diagnosis and outcome of PNH patients followed-up at a single institution.
Methods
Demographic, clinical, haematological and biochemical data were collected from patients followed-up at the our centre. The diagnosis of PNH was established using flow cytometry.
Results
880 patients were tested for PNH. A hundred forty patients had PNH clone. Of these, 124 had complete records and were included in this study (61 male and 63 female). The median age at diagnosis was 29.5 years (range 10-72). Ninety one patients (74%) had a previous diagnosis of Aplastic Anemia, 5 patients had MDS (4%) and 28 (22.5%) patients had classical PNH. The most common symptom at diagnosis was fatigue present in 109 patients (88%). 63/124 (51%) had bleeding and / or hemorrhagic suffusion, 18 (14%) jaundice, 23 (18%) hemoglobinuria, 13 (10%) abdominal pain, 11 (9%) thrombosis, 4 (3%) renal failure and 34 (27%) fever / infection. Median hemoglobin at diagnosis was 7.9 (2.6 to 14.0), median neutrophils / mm3 was 1.050 (100-8400) and median platelet 21,500 / mm3 (1000-494000). 55/124 (44%) had LDH> 1.5 times or more the upper limit of normal. Fifty one (41%) patients had PNH clone> 50% in granulocytes. During evolution 31/124 (25%) patients had thrombosis, 33/124 (27%) had hemoglobinuria and 15/124 (12%) had renal failure. Patients with classical PNH received supportive treatment with red blood cell transfusions, folic acid, prophylactic anticoagulant (14 patients with PNH clone> 50%) and long-term anticoagulation (31 patients with thrombosis). Two patients have been treated with eculizumab. 23/80 (28.6%) patients with AA/PNH have undergone bone marrow transplantation and the others (n = 57) were immunosuppressed with cyclosporine and antithymocitic globulin. 15/57 patients after immunosuppressive treatment, developed in a median period of 3.4 years (2-11 years), large clones (> 50%) behaving like classical PNH. In this period 8 patients with classical PNH died. The causes of death were thrombosis in 4 patients and infection in the others.
Conclusion
This study has a limitation because it was retrospective. Despite of that our results are similar to those found in the literature except in the occurrence of abdominal pain (less than expected). Eculizumab is not available for all patients in our centre. Because of that we have prophylactically anticoagulated patients with PNH clone above 50% and no contraindications for the procedure.
Session topic: E-poster
Keyword(s): Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria (PNH)
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