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.