TY - JOUR
T1 - A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients
AU - Mercuri, Angela
AU - Farruggia, Piero
AU - Timeus, Fabio
AU - Lombardi, Laura
AU - Onofrillo, Daniela
AU - Putti, Maria Caterina
AU - Pillon, Marta
AU - Cantarini, Maria Elena
AU - Corti, Paola
AU - Tridello, Gloria
AU - De Bortoli, Massimiliano
AU - Pegoraro, Anna
AU - Cesaro, Simone
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2017/5/1
Y1 - 2017/5/1
N2 - Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its treatment were compared in patients with classic PNH versus PNH associated with bone marrow disorder (PNH/BMD). A greater delay in diagnosis was observed in classic PNH compared to PNH/BMD patients. The first group of patients had higher levels of LDH, total bilirubin and absolute reticulocyte count and a bigger PNH clone size compared to PNH/BMD patients; also thrombotic events were observed only in the classic form of PNH. Conversely, PNH/BMD patients showed lower median levels of platelets. Apart from standard supportive measures, four patients with classic PNH received eculizumab whereas four patients with PNH/BMD underwent hematopoietic stem cell transplantation. Our series confirm that the most frequent presentation of PNH in the pediatric-adolescent age is PNH/BMD. The delay between the onset of symptoms and PNH diagnosis is relevant principally in the classic form. Moreover, our study showed that any case of unexpected thrombosis represents a criterium to perform a PNH screening.
AB - Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its treatment were compared in patients with classic PNH versus PNH associated with bone marrow disorder (PNH/BMD). A greater delay in diagnosis was observed in classic PNH compared to PNH/BMD patients. The first group of patients had higher levels of LDH, total bilirubin and absolute reticulocyte count and a bigger PNH clone size compared to PNH/BMD patients; also thrombotic events were observed only in the classic form of PNH. Conversely, PNH/BMD patients showed lower median levels of platelets. Apart from standard supportive measures, four patients with classic PNH received eculizumab whereas four patients with PNH/BMD underwent hematopoietic stem cell transplantation. Our series confirm that the most frequent presentation of PNH in the pediatric-adolescent age is PNH/BMD. The delay between the onset of symptoms and PNH diagnosis is relevant principally in the classic form. Moreover, our study showed that any case of unexpected thrombosis represents a criterium to perform a PNH screening.
KW - Intravascular hemolysis
KW - Paroxysmal nocturnal hemoglobinuria
KW - Pediatric, adolescent
UR - https://www.scopus.com/pages/publications/85016460860
U2 - 10.1016/j.bcmd.2017.03.006
DO - 10.1016/j.bcmd.2017.03.006
M3 - Article
C2 - 28380398
AN - SCOPUS:85016460860
SN - 1079-9796
VL - 64
SP - 45
EP - 50
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
ER -