Spectrum of cardiovascular manifestations in homozygous familial hypercholesterolemia

Autor:	Nitin Bajaj, Balbir Singh, Ananthkrishnan Ramamoorthy, Arijit Kumar Ghosh
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	atherosclerotic cardiovascular diseases homozygous familial hypercholesterolemia lipid-lowering therapies Naval Science Medicine
Zdroj:	Journal of Marine Medical Society, Vol 25, Iss 1, Pp 88-92 (2023)
Druh dokumentu:	article
ISSN:	0975-3605
DOI:	10.4103/jmms.jmms_30_22
Popis:	Homozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature atherosclerotic cardiovascular diseases. Disease manifestations usually develop in 1st or 2nd decade of life and severity depends on the duration of exposure to elevated LDL cholesterol levels. The mainstay in management is early recognition and treatment with various lipid-lowering agents including lipid-apheresis in severe cases not responding to drug therapy. We report three cases of HoFH presenting to our institute in their 2nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/a21f53c57c2a43cbb77a3ab822db21fb Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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