PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH ) AND APLASTIC ANAEMIA - DATA FROM THE SPANISH PNH REGISTRY.
(Abstract release date: 05/18/17)
EHA Library. de la iglesia S. 05/18/17; 182469; PB1755
Dr. Silvia de la iglesia
Contributions
Contributions
Abstract
Abstract: PB1755
Type: Publication Only
Background
Aplastic anaemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH) are included, together with other pathologies, within the bone marrow failure syndromes (BMFS). In the present time, these clinical entities cannot be understood as independent pathologies, due to the extremely frequent evolution among them and with other BMFS, along with the development of new clones in the context of haematopoietic stem cell's kinetics.
Aims
The aims of this study were analyzing and comparing the behaviour of patients who suffered from PNH with pancytopenia with respect to that of patients who were initially diagnosed of AA and who later developed a PNH clone.
Methods
A clinical form was elaborated and distributed among the investigators of the PNH Spanish Registry. Clicnical, laboratory and treatment data of the patient were asked. Soon after, a descriptive analysis of the data was performed.
Results
34 patients were recruited and analyzed (12 women and 22 men). Their age interval ranged from 2 to 87 years, and all of the patients suffered from either PNH with pancytopenia and/or AA with a developing PNH clone. The average age at the time of initial diagnosis was 28,5 years old (4m-72y). The initial diagnosis was: PNH with pancytopenia (1), moderate AA (16), severe AA (10), very severe AA (7).
15 patients presented a PNH clone in their granulocytes and/or monocytes at the time of diagnosis, being 24% the average of such clone (0-08-95%) and less than 2% in 7 patients. All of the cases that showed hemolitic signs at diagnosis presented clones > 20%. The time of the clone's development in the remaining cases was 8,7 years (5m-28y), appearing in 2 patients just after resolution.
Patients with AA received an average of 3 treatments, mostly cyclosporine with/without ATG (anti-thymocyte globulin). 10 patients underwent HCT (7 allogeneic HCT and 3 matched unrelated-donor HCT). 14 patients received eculizumab, being 88.2% the average size of the PNH clone at diagnosis (65-99%). Treatment response with eculizumab was total in 11 cases and partial in 3.
The following complications were observed: cholelithiasis (3), renal failure (6; 50% secondary to treatment), iron overload that required chelation therapy (3), transient aplastic crisis due to parvovirus B19 (1), HCV infection (1), thrombosis (6). 4 patients started anticoagulant treatment prior to eculizumab with no evidence of further thrombosis once the treatment was initiated.
28 patients remain alive (26 of them with very good quality of life). 3 of them died due to HCT-complications and follow-up was lost in the 3 remaining cases.
Conclusion
Clonal evolution in AA is frequently associated with the development of a PNH clone at the time of diagnosis, throughout the pathology' natural course or even after disease's resolution. The development of such clone has been related to better prognosis in AA right after the immunosuppressive therapy (IST). Our experience demonstrated the presence of hemolisis in at least half of the cases, making it necessary in these patients treatment with eculizumab, generally obtaining a very good response.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Aplastic anemia, PNH
Abstract: PB1755
Type: Publication Only
Background
Aplastic anaemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH) are included, together with other pathologies, within the bone marrow failure syndromes (BMFS). In the present time, these clinical entities cannot be understood as independent pathologies, due to the extremely frequent evolution among them and with other BMFS, along with the development of new clones in the context of haematopoietic stem cell's kinetics.
Aims
The aims of this study were analyzing and comparing the behaviour of patients who suffered from PNH with pancytopenia with respect to that of patients who were initially diagnosed of AA and who later developed a PNH clone.
Methods
A clinical form was elaborated and distributed among the investigators of the PNH Spanish Registry. Clicnical, laboratory and treatment data of the patient were asked. Soon after, a descriptive analysis of the data was performed.
Results
34 patients were recruited and analyzed (12 women and 22 men). Their age interval ranged from 2 to 87 years, and all of the patients suffered from either PNH with pancytopenia and/or AA with a developing PNH clone. The average age at the time of initial diagnosis was 28,5 years old (4m-72y). The initial diagnosis was: PNH with pancytopenia (1), moderate AA (16), severe AA (10), very severe AA (7).
15 patients presented a PNH clone in their granulocytes and/or monocytes at the time of diagnosis, being 24% the average of such clone (0-08-95%) and less than 2% in 7 patients. All of the cases that showed hemolitic signs at diagnosis presented clones > 20%. The time of the clone's development in the remaining cases was 8,7 years (5m-28y), appearing in 2 patients just after resolution.
Patients with AA received an average of 3 treatments, mostly cyclosporine with/without ATG (anti-thymocyte globulin). 10 patients underwent HCT (7 allogeneic HCT and 3 matched unrelated-donor HCT). 14 patients received eculizumab, being 88.2% the average size of the PNH clone at diagnosis (65-99%). Treatment response with eculizumab was total in 11 cases and partial in 3.
The following complications were observed: cholelithiasis (3), renal failure (6; 50% secondary to treatment), iron overload that required chelation therapy (3), transient aplastic crisis due to parvovirus B19 (1), HCV infection (1), thrombosis (6). 4 patients started anticoagulant treatment prior to eculizumab with no evidence of further thrombosis once the treatment was initiated.
28 patients remain alive (26 of them with very good quality of life). 3 of them died due to HCT-complications and follow-up was lost in the 3 remaining cases.
Conclusion
Clonal evolution in AA is frequently associated with the development of a PNH clone at the time of diagnosis, throughout the pathology' natural course or even after disease's resolution. The development of such clone has been related to better prognosis in AA right after the immunosuppressive therapy (IST). Our experience demonstrated the presence of hemolisis in at least half of the cases, making it necessary in these patients treatment with eculizumab, generally obtaining a very good response.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Aplastic anemia, PNH
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