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Homozygous familial hypercholesterolemia with valvulopathy
oleh: Ashokan Nambiar, Robin George Manappallil, V G Pradeep Kumar, Avinash Sarpamale
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2019-01-01 |
Deskripsi
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.