eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
 
3/2021
vol. 27
 
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abstract:
Case report

Familial hypercholestrolemia: clinical examination holds the key!

Pooja Dewan
1
,
Chander Grover
2

1.
Department of Paediatrics University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India
2.
Department of Dermatology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India
Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 209–212
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:

arcus lipoides corneae, child, dyslipidemia, familial hypercholesterolemia



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