The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

• Published in: Neurological sciences 2020-05, Vol.41 (5), p.1163-1170
• Main Authors: Dardiotis, Efthimios, Andreou, Savanna, Aloizou, Athina-Maria, Panayiotou, Elena, Siokas, Vasileios, Ioannou, Mihaela Nedea, Vounou, Emmelia, Christodoulou, Kyproula, Tanteles, George A., Michaelides, Demos, Kyriakides, Theodoros
• Format: Article
• Language: English
• Subjects: Adult; Age; Amyloid Neuropathies, Familial - epidemiology; Amyloid Neuropathies, Familial - genetics; Amyloid Neuropathies, Familial - therapy; Amyloidosis; Autonomic nervous system; Brain - diagnostic imaging; Brain - pathology; Central nervous system; Central Nervous System Diseases - epidemiology; Central Nervous System Diseases - etiology; Central Nervous System Diseases - pathology; Cohort Studies; Epidemiology; Female; Genetics; Glaucoma; Hemorrhage; Humans; Liver; Liver diseases; Liver transplantation; Liver Transplantation - adverse effects; Liver transplants; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Nervous system; Neurology; Neuropathy; Neuroradiology; Neurosciences; Neurosurgery; Original Article; Patients; Prealbumin - genetics; Psychiatry; Sensorimotor system; Transplants & implants; Transthyretin; Young Adult
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-019-04176-9

Background Hereditary transthyretin amyloidosis (ATTR) is a hereditary, sensorimotor and autonomic neuropathy caused by deposits of mutated transthyretin (TTR). The commonest TTR mutation is V30M (ATTRV30M) with patients usually living for about 10 years after disease onset. Liver transplantation (LT) until recently was considered the standard treatment. Objective and methods This study aims to assess the frequency of CNS complications in post-LT patients from the Cypriot cohort. Epidemiological data were collected for all genetically confirmed ATTRV30M neuropathy patients diagnosed at CING since 1992, and CNS-associated symptoms were assessed and evaluated by two neurology specialists. Results Out of the 48 transplanted patients, 10 (20.8%) presented with a CNS complication. All patients had ocular involvement, mainly glaucoma (7/10). Eight presented with transient focal neurological episodes (TFNEs), with expressive dysphasia being reported by four of them. The mean time of TFNE-emergence was 16.6 years after the LT. Three died from cerebral hemorrhage. Conclusions CNS complications in post-LT ATTRV30M patients are not rare and usually manifest themselves at a time that surpasses the mean time the patients would have survived without a LT. CNS involvement is associated with increased mortality, due to cerebral hemorrhage.