Hemocromatosis neonatal: otra entidad que deja de ser huérfana. Avances en el diagnóstico y manejo de la principal causa de fallo hepático agudo neonatal / Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure

La hemocromatosis neonatal es la causa más frecuente de fallo hepático agudo en el periodo neonatal. Asocia una elevada morbimortalidad dado el daño hepático secundario a acúmulo de hierro. En los últimos años, las nuevas evidencias acerca de su etiopatogenia aloinmune han repercutido sobre el diagnóstico, el tratamiento y el pronóstico de estos pacientes. El tratamiento con gammaglobulinas y exsanguinotransfusión ha cambiado radicalmente el pronóstico libre de trasplante. Otro gran éxito ha sido el uso preventivo de gammaglobulina en las gestantes con antecedentes de hemocromatosis neonatal, disminuyendo así la tasa de recurrencia de la enfermedad de hasta un 70%. Este nuevo paradigma ha convertido a una entidad con un pobre pronóstico en una patología con posibilidad de curación si se diagnostica y trata precozmente. A pesar de ello, sigue habiendo un gran desconocimiento generalizado de la enfermedad, con implicaciones médicas que derivan en un importante problema sanitario, ya que estos pacientes se derivan de forma tardía a los centros especializados

Neonatal hemochromatosis is the most common cause of acute liver failure in the neonatal period. It is associated with high morbidity and mortality due to iron overload in hepatic and extra-hepatic tissues. New evidence has emerged during the last few years as regards its alloimmune etiology, which have had an important repercussion on the diagnosis, treatment and prognosis of these patients. Treatment with immunoglobulins and exchange transfusions has radically changed the prognosis without liver transplant. Another great success has been the preventive use of immunoglobulin in pregnant women with a past history of neonatal hemochromatosis, thus decreasing the rate of disease recurrence up to 70%. This new paradigm has led to an entity with a poor prognosis becoming a curable disease if diagnosed and treated early. Nevertheless, a large widespread ignorance of the disease persists, with medical implications that result in significant health problems, due to the delayed referral of these patients to specialized centers

[Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure]. / Hemocromatosis neonatal: otra entidad que deja de ser huérfana. Avances en el diagnóstico y manejo de la principal causa de fallo hepático agudo neonatal.

Neonatal hemochromatosis is the most common cause of acute liver failure in the neonatal period. It is associated with high morbidity and mortality due to iron overload in hepatic and extra-hepatic tissues. New evidence has emerged during the last few years as regards its alloimmune etiology, which have had an important repercussion on the diagnosis, treatment and prognosis of these patients. Treatment with immunoglobulins and exchange transfusions has radically changed the prognosis without liver transplant. Another great success has been the preventive use of immunoglobulin in pregnant women with a past history of neonatal hemochromatosis, thus decreasing the rate of disease recurrence up to 70%. This new paradigm has led to an entity with a poor prognosis becoming a curable disease if diagnosed and treated early. Nevertheless, a large widespread ignorance of the disease persists, with medical implications that result in significant health problems, due to the delayed referral of these patients to specialized centers.