Recurrent lobar intracerebral hemorrhage in Tangier disease

Area of Science:

• Neuroscience
• Genetics
• Cardiovascular Medicine

Background:

• Familial α-lipoprotein deficiency, also known as Tangier disease, is a rare genetic disorder characterized by severe deficiency or absence of high-density lipoprotein (HDL).
• Cerebral amyloid angiopathy (CAA) is a common cause of non-traumatic intracerebral hemorrhage, particularly in the elderly, associated with the deposition of amyloid-beta protein in cerebral vessel walls.

Observation:

• A patient with Tangier disease presented with recurrent lobar intracerebral hemorrhages.
• Magnetic resonance imaging (MRI) revealed accumulating microbleeds, indicative of probable cerebral amyloid angiopathy.

Findings:

• The study highlights a potential connection between mutations in the adenotriphosphate-binding cassette A1 (ABCA1) transporter gene, causative for Tangier disease, and apolipoprotein-E (ApoE) expression within the brain.
• This association suggests a novel pathway linking Tangier disease pathophysiology to the development of cerebral amyloid angiopathy.

Implications:

• The findings suggest that ABCA1 transporter dysfunction may play a role in the pathogenesis of cerebral amyloid angiopathy.
• Further research into the ABCA1 transporter's role in cerebral amyloid angiopathy could lead to new therapeutic strategies for patients with Tangier disease and those at risk for cerebral hemorrhages.