| CASE REPORT |
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| Year : 2019 | Volume
: 8
| Issue : 1 | Page : 34-37 |
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Homozygous familial hypercholesterolemia with valvulopathy
Ashokan Nambiar DM 1, Robin George Manappallil MD 2, VG Pradeep Kumar DM 3, Avinash Sarpamale MBBS 2
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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