Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma

Abstract

Familial hypercholesterolemia (FH) is one of the inherited metabolic diseases, demonstrating the low-density lipoprotein receptor (LDLR) abnormality and serum cholesterol level marked elevation. FH has become an extremely high incident cause of occlusive coronary heart disease. However, even though hemorheological disorder caused by hyperlipidemia is a risk factor of ischemic cerebrovascular disease, cerebral infarction caused by FH has not been given much attention. We present a 41-year-old man with a family history of hypercholesterolemia was admitted to our hospital with dizziness, vertigo, slurred speech, and weakness in his left limbs. Head CT scan showed multiple acute cerebral infarction in the right frontal and parietal lobes. He had arcus corneae and less obvious signs of cutaneous xanthomas in the hands and knees. Molecular analysis of the LDLR gene identified heterozygous and missense mutation in exon 12 of the LDLR gene. The final diagnosis was cerebral infarction caused by FH. It is worth noting that cerebral infarction may also occur in patients with FH. Even if the most patients do not have any sign or history of cerebral ischemia, they need more attention to precise examination of the brain.

Keywords: Cerebral infarction; LDLR gene; familial hypercholesterolemia; xanthoma.