Details

Autor(en) / Beteiligte

• Sharma, Soumya
• Sethi, Sean Kumar
• Reese, David
• Gharabaghi, Sara
• Yerramsetty, Kiran Kumar
• Palutla, Vinay Kumar
• Chen, Yongsheng
• Haacke, E. Mark
• Jog, Mandar S.

Titel

Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: A cross‐sectional study

Ist Teil von

• European journal of neurology, 2022-05, Vol.29 (5), p.1417-1426

Ort / Verlag

England: John Wiley & Sons, Inc

Erscheinungsjahr

2022

Quelle

Wiley-Blackwell Full Collection

Beschreibungen/Notizen

• Background and purpose Hereditary haemochromatosis (HH) is the most common inherited disorder of systemic iron excess in Northern Europeans. Emerging evidence indicates that brain iron overload occurs in HH. Despite this observation, there is a paucity of literature regarding central neurological manifestations, in particular movement disorders, in HH. The current study documents deep gray matter (DGM) nuclei iron deposition, movement disorders, and clinicoradiological correlations in HH without liver failure. Methods This is a cross‐sectional study. Consecutive subjects with HFE‐haemochromatosis without liver disease were recruited from an outpatient gastroenterology clinic. Age‐ and sex‐matched healthy controls (HCs) were enrolled. Iron content in individual DGM nuclei was measured as mean susceptibility on magnetic resonance imaging using quantitative susceptibility mapping‐based regions of interest analysis. Occurrence and phenotype of movement disorders were documented and correlated with patterns of DGM nuclei iron deposition in subjects with HH. Results Fifty‐two subjects with HH and 47 HCs were recruited. High magnetic susceptibility was demonstrated in several DGM nuclei in all HH subjects compared to HCs. Thirty‐five subjects with HH had movement disorders. Magnetic susceptibility in specific DGM nuclei correlated with individual movement disorder phenotypes. Serum ferritin, phlebotomy frequency, and duration were poor predictors of brain iron deposition. Conclusions Abnormal brain iron deposition can be demonstrated on imaging in all subjects with HH without liver failure. A significant proportion of these subjects manifest movement disorders. Peripheral iron measurements appear not to correlate with brain iron deposition. Therefore, routine neurological examination and quantitative brain iron imaging are recommended in all subjects with HH. Hereditary haemochromatosis causes brain iron deposition in excess when compared to age‐matched healthy controls. This iron deposition is seen in deep gray matter nuclei and has a strong correlation with the phenotypic presentation of movement disorders.