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CASE REPORT
Year : 2019  |  Volume : 8  |  Issue : 1  |  Page : 34-37

Homozygous familial hypercholesterolemia with valvulopathy


1 Department of Cardiology, Baby Memorial Hospital, Calicut, Kerala, India
2 Department of Internal Medicine, Baby Memorial Hospital, Calicut, Kerala, India
3 Department of Neurology, Baby Memorial Hospital, Calicut, Kerala, India

Correspondence Address:
Robin George Manappallil
Department of Internal Medicine, Baby Memorial Hospital, Calicut - 673 004, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JCPC.JCPC_26_18

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Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipid metabolism. The occurrence of its homozygous form is rare. This is a case of a young girl who presented with syncope and was found to have multiple tuberous xanthomas and valvulopathy, along with deranged lipid profile, suggestive of homozygous FH.


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