Paroxysmal nocturnal hemoglobinuria: When delay in diagnosis and long therapy occurs

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Salvatrice Mancuso *
Giuseppe Sucato
Melania Carlisi
Marco Santoro
Giuseppe Tarantino
Emilio Iannitto
Mariasanta Napolitano
Sergio Siragusa
(*) Corresponding Author:
Salvatrice Mancuso | salvatrice.mancuso@unipa.it

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterized by hemolytic anemia, bone marrow failure and thrombosis, caused by a somaticmutation in PIG-A gene that results in theabsence of CD55 and CD59, two important complement regulatory proteins. In thispaper, a case of PNH is retrospectively examined looking for clinical and laboratory features, and the entire course of the disease from the onset of the symptoms isdescribed, together with an adequate follow-up over a 7-years treatment period. Inthis case, the not specificity and the limited clinical relevance of the symptoms led to adelay in diagnosis. After thrombosis, Eculizumab therapy has been shown to be effective, and during seven years of follow-up no events have occurred that put the patient’s life at risk. A multidisciplinary approach is crucial in cases like this, inorder to allow early diagnosis and minimize the risks for the patients.

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