biostudies-literatureUnknown15(1)Vroegindeweij LHP<h4>Background</h4>Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment.<h4>Methods</h4>Data on clinical manifestations, treatment and neurological outcomes of treatment were collected from three neurologically symptomatic Dutch patients, who received deferiprone with phlebotomy as a new therapeutic approach, and combined with other published cases. Neurological outcomes of treatment were compared between patients starting treatment when neurologically symptomatic and patients without neurological manifestatiOrphanet journal of rare diseases105https://www.ebi.ac.uk/biostudies/studies/S-EPMC7183696biostudies-literatureEffects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.PMC7183696Wilson JHPBoon AJWVroegindeweij LHPLangendonk JGfalseEffects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.<h4>Background</h4>Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment.<h4>Methods</h4>Data on clinical manifestations, treatment and neurological outcomes of treatment were collected from three neurologically symptomatic Dutch patients, who received deferiprone with phlebotomy as a new therapeutic approach, and combined with other published cases. Neurological outcomes of treatment were compared between patients starting treatment when neurologically symptomatic and patients without neurological manifestati2020-01-01T00:00:00Z2020 Apr2026-05-01T20:01:33.65Z2020-05-22T18:45:30ZS-EPMC71836963233460710.1186/s13023-020-01385-w