Aceruloplasminaemia: a rare but important cause of iron overload

We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to...

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Bibliographic Details
Published in:BMJ case reports 2015-05, Vol.2015, p.bcr2014207541
Main Authors: Doyle, Adam, Rusli, Ferry, Bhathal, Prithi
Format: Article
Language:English
Subjects:
Adult
Anemia
Antigens
Ataxia
Australasia
Benzoates - therapeutic use
Ceruloplasmin - deficiency
Chelation Therapy - methods
Copper
Diabetes
Disease Progression
Early Diagnosis
Family medical history
Ferritins - blood
Hepatitis
Humans
Indian Sub-Continent
Iron Chelating Agents - therapeutic use
Iron Metabolism Disorders - blood
Iron Metabolism Disorders - diagnosis
Iron Metabolism Disorders - physiopathology
Iron Overload - blood
Iron Overload - diagnosis
Iron Overload - physiopathology
Liver - metabolism
Liver - pathology
Liver diseases
Magnetic Resonance Imaging
Male
Neurodegenerative Diseases - blood
Neurodegenerative Diseases - diagnosis
Neurodegenerative Diseases - drug therapy
Neurodegenerative Diseases - physiopathology
Neurodegenerative Diseases - prevention & control
Phosphatase
Plasma
Proteins
Rare Disease
Substance abuse treatment
Treatment Outcome
Triazoles - therapeutic use
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Summary:We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-207541