Familial Hypercholesterolemia and Cerebral Infarction - A Case Report

Abstract Background: Familial hypercholesterolemia has various presentations mostly including early-onset cardiovascular diseases, remarkable skin and tendon xanthomas. By comparison, Cerebral Infarction due to familial hypercholesterolemia is extremely rare. Case presentation: We present a 41-year-old man who was admitted to our hospital with dizziness, vertigo, slurred speech, weakness in his left limbs. He had family history of Hyperlipidemia in older sister . Head CT scan demonstrated multiple acute cerebral infarction in the right frontal and parietal lobes, and arterial plaques was found in the bifurcation of common carotid artery. The severe carotid stenosis was located in the initial segment of the right internal carotid artery. Histopathologic findings were consistent with xanthoma. Especially, molecular analysis of the LDLR gene was made, which identified heterozygous missense mutation in exon 12 of the LDLR gene. The final diagnosis of cerebral infarction associated with familial hypercholesterolemia was made. The patient was referred to a nutritionist for dietary advice, and was treated with Tab. Finally, the patient recovered well. The symptoms of brain infarct vanished and no recurrence occurred during follow-up.Conclusions: In the present case, the acute cerebral infarction is most likely due to hypercholesterolemia, as his family history of hypercholesterolemia, and arterial plaques and severe carotid stenosis was found by CTA. This case highlights the importance of the early diagnosis and treatment of hypercholesterolemia, which may help in preventing the development of cardiovascular and cerebrovascular diseases.