Familial hypercholestrolemia: clinical examination holds the key!

Pooja Dewan; Chander Grover

doi:10.5114/pedm.2021.107714

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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3/2021
vol. 27

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abstract:

Case report

Familial hypercholestrolemia: clinical examination holds the key!

Pooja Dewan

¹

,

Chander Grover

²

Department of Paediatrics University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India
Department of Dermatology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India

Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 209–212

DOI: https://doi.org/10.5114/pedm.2021.107714

Online publish date: 2021/09/30

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Familial hypercholesterolemia is a rare genetic disease, although it is amongst the commonest dyslipidemias. It characterized by raised cholesterol levels and normal triglyceride levels. Childhood presentation of familial hypercholesterolemia can cause early atherosclerotic plaque deposition in arteries and a markedly increased risk of coronary heart disease (CHD) at a young age. A thorough clinical examination, including identification of signs like cutaneous lesions and careful eye examination, can clinch the diagnosis.

keywords:

Familial hypercholestrolemia: clinical examination holds the key!

Pooja Dewan 1 , Chander Grover 2

arcus lipoides corneae, child, dyslipidemia, familial hypercholesterolemia

Pooja Dewan

¹

,

Chander Grover

²