Back to Search Start Over

Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre.

Authors :
Syal, Simran
Rao, Sudha
Joshi, Rajesh
Keshwani, Rachna
Bodhanwala, Minnie
Source :
Indian Journal of Endocrinology & Metabolism; May/Jun2023, Vol. 27 Issue 3, p230-236, 7p
Publication Year :
2023

Abstract

Background: Primary dyslipidaemia in children is a rare inherited disorder of lipoprotein metabolism with debilitating sequelae and poor outcomes. Lipid-lowering drugs have less often been used in children and long-term outcome studies are scarce. The purpose of this study was to understand the clinical and laboratory profile, response to treatment on follow up and outcome of primary dyslipidaemia in Indian children. Methods: Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary. Results: Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two. Conclusion: Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
22308210
Volume :
27
Issue :
3
Database :
Complementary Index
Journal :
Indian Journal of Endocrinology & Metabolism
Publication Type :
Academic Journal
Accession number :
171869210
Full Text :
https://doi.org/10.4103/ijem.ijem_248_22