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Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia
- Source :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
- Publication Year :
- 2017
- Publisher :
- BioMed Central, 2017.
-
Abstract
- Background Around 47–74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved. Additionally, Mn shares iron absorption mechanisms, transferrin and CNS transferrin receptors. In iron deficiency conditions, the Mn may harbor transferrin and access BG. The objectives were to describe frequency of BG Mn deposit-induced lesions (BGMnIL) in HHT patients, its relationship with iron deficiency anemia (IDA) and HVMs. Finally, explore the association between neuropsychological and motor consequences. We performed a cross-sectional study. We determined HHT patients with or without BG-MnIL by the MRI screening of the CNS. We included all patients with lesions and a random sample of those without lesions. All patients underwent standardized and validated neuropsychological assessment to evaluate BG actions. Results were analyzed with multiple logistic regression, adjusting for potential confounders. Results Among 307 participants from a cohort included in the Institutional HHT Registry, 179 patients had MRI performed and Curaçao Criteria ≥3. The prevalence of BG-MnIL was 34.6% (95%CI 27.69-42.09). While neuropsychological symptoms were present in all patients, BG-MnIL patients performed poorly in three of the neuropsychological tests (serial dotting, line tracing time, number connection test A). HVMs frequency in BG-MnIL was 95.1%, versus 71.4% in those without lesions (p
- Subjects :
- 0301 basic medicine
Adult
Central Nervous System
Male
medicine.medical_specialty
Iron
lcsh:Medicine
Transferrin receptor
Gastroenterology
Basal Ganglia
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine
Humans
Hepatic vascular malformations
Pharmacology (medical)
Neuropsychological assessment
Telangiectasia
Hepatic encephalopathy
Genetics (clinical)
Aged
Manganese
medicine.diagnostic_test
Anemia, Iron-Deficiency
business.industry
Research
lcsh:R
Confounding
Magnetic resonance imaging
General Medicine
Middle Aged
medicine.disease
Magnetic Resonance Imaging
030104 developmental biology
Cross-Sectional Studies
Iron-deficiency anemia
Hereditary hemorrhagic telangiectasia
Iron deficiency anemia
Cohort
Basal ganglia manganese deposits
Female
Telangiectasia, Hereditary Hemorrhagic
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
- Accession number :
- edsair.doi.dedup.....5e7289adaec98c607543dc4f4dcf5b9d