Familial Hypercholesterolaemia (FH) is a monogenic autosomal dominant disorder affecting 1 in 500 individuals. We report a case of 32-year-old female with FH, previously not on any treatment, who presented with recurrent bilateral Middle Cerebral Artery (MCA) territory strokes and dyspnoea on exertion due to severe panvascualar disease involving descending aorta, innominate, subclavian, common carotid, internal carotid and coronary vessels. Her complete clinical work up was done and was started on lipid lowering drug treatment and low calorie diet. She underwent simultaneous bilateral carotid stenting followed by coronary artery bypass surgery at a later date. In the present scenario we want to emphasize the importance of early detection and treatment of individuals with FH, failing of which results in premature and accelerated atherosclerosis causing multisystemic vascular disease with significant morbidity and mortality. Screening of first degree relatives is important owing to the autosomal dominant inheritance pattern of the FH.

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http://dx.doi.org/10.7860/JCDR/2016/19115.8594DOI Listing

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