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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Severe polyarterial involvement in a 16-year-old with homozygous familial hypercholesterolaemia: a case report
Malak Benabdellah1, Mohammed Bachir Mesfioui1, Hajar El Ouartassi1
1Cardiology Department, Mohammed VI University Hospital, Tangier 90000, Morocco.
Background:
Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder characterized by an elevated plasma concentration of low-density lipoprotein cholesterol (LDL-C) starting at birth and a significantly increased risk of premature atherosclerotic cardiovascular disease.
Case Summary:
We report the case of a 16-year-old female patient, with no known consanguinity, presented to our cardiology department for anginal chest pain on exertion associated with headaches. She presented with characteristic morphological features of FH. Her lipid profile revealed extremely high LDL-C levels (706 mg/dL) and such extensive arterial and cutaneous involvement.
Discussion:
This case underscores the importance of recognizing xanthomas and their association with an increased risk of coronary atherosclerosis.
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