Abstract 459: A Tale of Two Sisters: Intracerebral Hemorrhage with COL4A1 Gene Variant Case Series
Abstract
Spontaneous intracerebral hemorrhage (sICH) accounts for 10‐20% of all strokes and is a significant cause of disability and mortality. While commonly linked to factors such as hypertension and amyloid angiopathy, sICH can also occur without traditional risk factors, suggesting a genetic basis. Identifying familial patterns of sICH can guide testing and provide valuable insights for affected families. We present two sisters who experienced sICH within the same year, both carrying a COL4A1 gene mutation.
Two patients with genetically confirmed COL4A1 gene variant and sICH were reviewed retrospectively including imaging findings.
A 41‐year‐old woman presented with right‐sided weakness and aphasia, found to have spontaneous left basal ganglia hemorrhage. Digital subtraction angiogram showed concentric vessel narrowing in the middle and anterior cerebral arteries, consistent with medium vessel vasculopathy. Similarly, her 40‐year‐old sister presented with left‐sided weakness and a spontaneous basal ganglia hemorrhage. Despite extensive testing, the cause of hemorrhage remained unclear. Both patients underwent genetic testing which revealed a COL4A1 gene variant.
The COL4A1 mutation impairs type IV collagen secretion, leading to basement membrane defects that weaken blood vessels and disrupt vascular function. In COL4A1 mutation, sICH predominantly occurs in the basal ganglia and patients may also present with arteriolar tortuosity, migraines, leukoencephalopathy, and dilated…
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