Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Area of Science:

• Genetics
• Metabolic Diseases
• Neurology

Background:

• Familial hypercholesterolemia (FH) is an inherited metabolic disease characterized by low-density lipoprotein receptor (LDLR) abnormalities and elevated serum cholesterol.
• FH is a significant cause of coronary heart disease, but its link to cerebrovascular disease is often overlooked.

Observation:

• A 41-year-old man with a family history of FH presented with stroke symptoms including dizziness, vertigo, slurred speech, and left-sided weakness.
• Head CT revealed multiple acute cerebral infarctions. Physical examination showed arcus corneae and xanthomas.
• Genetic analysis identified a heterozygous missense mutation in exon 12 of the LDLR gene.

Findings:

• The patient was diagnosed with cerebral infarction secondary to Familial hypercholesterolemia.
• This case highlights that cerebral infarction is a potential complication of FH, even in the absence of prior neurological symptoms.

Implications:

• Cerebral infarction should be considered in patients diagnosed with FH.
• Increased attention and precise brain examinations are recommended for FH patients, regardless of their history of cerebral ischemia.
• Understanding the neurological risks associated with FH can improve patient management and outcomes.