Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease
| Autor: | Huub A. M. Middelkoop, A. J. Fogteloo, E.W. van Zwet, Marlies E.J. Reinders, A.M.J.M. van den Maagdenberg, C. C. Poot, A. Inderson, Joost Haan, Mark C. Kruit, E. S. Hoogeveen, Michel D. Ferrari, Gisela M. Terwindt, R. Bunnik, Nadine Pelzer |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Pathology Neurology kidney disease microangiopathy Disease 030204 cardiovascular system & hematology Neuropsychological Tests Leukoencephalopathy 03 medical and health sciences Liver disease 0302 clinical medicine Leukoencephalopathies Internal Medicine medicine Humans thyroid disease Age of Onset Subclinical infection Netherlands Retinal Vasculitis business.industry Liver Diseases neurology Microangiopathy Systemic Vasculitis Raynaud Disease Middle Aged medicine.disease Phosphoproteins Magnetic Resonance Imaging White Matter Raynaud's phenomenon 030104 developmental biology Exodeoxyribonucleases Mutation Female Kidney Diseases business liver disease Kidney disease Retinopathy |
| Zdroj: | Journal of Internal Medicine, 285(3), 317-332. WILEY Journal of Internal Medicine, 285(3), 317-332 |
| Popis: | Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small vessel disease caused by C-terminal truncating TREX1 mutations. The disease is typically characterized by vascular retinopathy and focal and global brain dysfunction. Systemic manifestations have also been reported but not yet systematically investigated. Methods In a cross-sectional study, we compared the clinical characteristics of 33 TREX1 mutation carriers (MC+) from three Dutch RVCL-S families with those of 37 family members without TREX1 mutation (MC-). All participants were investigated using personal interviews, questionnaires, physical, neurological and neuropsychological examinations, blood and urine tests, and brain MRI. Results In MC+, vascular retinopathy and Raynaud's phenomenon were the earliest symptoms presenting from age 20 onwards. Kidney disease became manifest from around age 35, followed by liver disease, anaemia, markers of inflammation and, in some MC+, migraine and subclinical hypothyroidism, all from age 40. Cerebral deficits usually started mildly around age 50, associated with white matter and intracerebral mass lesions, and becoming severe around age 60-65. Conclusions Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare, but likely underdiagnosed, systemic small vessel disease typically starting with vascular retinopathy, followed by multiple internal organ disease, progressive brain dysfunction, and ultimately premature death. |
| Databáze: | OpenAIRE |
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