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Brain MRI in patients with V30M hereditary transthyretin amyloidosis
Luísa Sousa1,2,3, Catarina Pinto4, Ana Azevedo1,3
1Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
Background:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
Insights
White matter hyperintensities are common in hereditary transthyretin amyloidosis (ATTRv) with the V30M mutation, even in early stages. Hemorrhagic lesions are rare, suggesting other factors influence bleeding risk in ATTRv patients.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Hereditary transthyretin amyloidosis (ATTRv) with the V30M mutation frequently causes central nervous system dysfunction.
- Neuropathology reveals leptomeningeal amyloid deposition and cerebral amyloid angiopathy (CAA).
- Brain MRI is crucial for assessing CAA, but systematic studies in ATTRv are lacking.
Purpose of the Study:
- To systematically evaluate brain MRI findings in patients with ATTRv V30M.
- To investigate the prevalence of ischemic and hemorrhagic lesions in the brain.
- To determine the association of these lesions with disease duration.
Main Methods:
- Conducted 3T brain MRIs in 16 patients with longstanding ATTRv V30M (>14 years).
- Retrospectively reviewed 48 additional brain MRIs from patients.
- Systematically assessed CNS symptoms and blindly reviewed MRIs for lesions.
Main Results:
- White matter hyperintensities (WMH) were found in 50% of the prospective cohort and 41.7% of the retrospective cohort.
- Microbleeds were rare (10.4% in retrospective cohort), with no large ischemic or hemorrhagic lesions.
- WMH, microbleeds, and cortical atrophy were not associated with disease duration.
Conclusions:
- White matter hyperintensities are a common finding in ATTRv V30M, regardless of disease duration.
- Hemorrhagic lesions are infrequent, even in long-standing disease.
- Other risk factors likely contribute to bleeding complications in ATTRv.
