Spectrum of Cardiovascular Manifestations in Homozygous Familial Hypercholesterolemia

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 manifestat...

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Bibliographic Details
Published in:Journal of Marine Medical Society 2023-01, Vol.25 (1), p.88-92
Main Authors: Bajaj, Nitin, Singh, Balbir, Ramamoorthy, Ananthkrishnan, Ghosh, Arijit Kumar
Format: Article
Language:English
Subjects:
atherosclerotic cardiovascular diseases
homozygous familial hypercholesterolemia
lipid-lowering therapies
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Summary: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 1 st or 2 nd 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 2 nd decade of life with different cutaneous and cardiovascular manifestations and discuss challenges in their management.
ISSN:0975-3605
2589-1235
DOI:10.4103/jmms.jmms_30_22