Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report

Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report

Abstract Background Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing familial hypercholesterolemia at an early age is crucia...

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Bibliographic Details
Main Authors: Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Journal of Medical Case Reports
Subjects:
Familial hypercholesterolemia
Case report
Autosomal dominant disorder
Tendon xanthoma
Aortic valve disease
Online Access:https://doi.org/10.1186/s13256-025-05070-z
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