Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
Unidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Amyloid. 2024 Dec;31(4):285-290. doi: 10.1080/13506129.2024.2391842. Epub 2024 Aug 17.
Central nervous system dysfunction is common in longstanding hereditary transthyretin amyloidosis (ATTRv) caused by the V30M (p.V50M) mutation. Neuropathology studies show leptomeningeal amyloid deposition and cerebral amyloid angiopathy (CAA). Brain MRI is widely used in the assessment of Aβ associated CAA but there are no systematic studies with brain MRI in ATTRv amyloidosis.
we performed 3 T brain MRIs in 16 patients with longstanding (>14 years) ATTRV30M. We additionally retrospectively reviewed 48 brain MRIs from patients followed at our clinic. CNS symptoms and signs were systematically accessed, and MRIs were blindly reviewed for ischaemic and haemorrhagic lesions.
in the prospective cohort, we found white matter hyperintensities in 8/16 patients (50%, Fazekas score> =1). There were no relevant microbleeds, large ischaemic or haemorrhagic lesions or superficial siderosis. In the retrospective cohort, microbleeds were found in 5/48 patients (10,4%), two of which with > =20 microbleeds. White matter hyperintensities were found in 20/48 cases (41.7%). White matter lesions, microbleeds and cortical atrophy were not associated with disease duration.
white matter hyperintensities are common in ATTRV30M, irrespective of disease duration. Haemorrhagic lesions are rare, even in patients with longstanding disease, suggesting the existence of other risk factors.
由 V30M（p.V50M）突变引起的长期遗传性转甲状腺素蛋白淀粉样变性（ATTRv）患者常出现中枢神经系统功能障碍。神经病理学研究表明存在软脑膜淀粉样沉积和脑淀粉样血管病（CAA）。脑 MRI 广泛用于评估与 Aβ 相关的 CAA，但在 ATTRv 淀粉样变性中尚无系统的脑 MRI 研究。
我们对 16 例长期（>14 年）ATTRV30M 患者进行了 3T 脑部 MRI 检查。此外，我们还回顾性分析了在我们诊所就诊的 48 例患者的脑部 MRI。系统评估了中枢神经系统症状和体征，并对 MRI 进行了盲法复查，以评估缺血性和出血性病变。
在前瞻性队列中，我们发现 16 例患者中有 8 例（50%，Fazekas 评分>1）存在脑白质高信号。无相关微出血、大的缺血性或出血性病变或脑表面铁沉积。在回顾性队列中，5/48 例（10.4%）患者发现有微出血，其中 2 例>20 个微出血。20/48 例（41.7%）患者发现有脑白质高信号。脑白质病变、微出血和皮质萎缩与疾病持续时间无关。
无论疾病持续时间如何，ATTRV30M 患者均常见脑白质高信号。出血性病变罕见，即使是长期患病的患者，这提示存在其他危险因素。
