Related Experiment Video
Updated: Jul 19, 2025
Assessing Whole-Body Lipid-Handling Capacity in Mice
Published on: November 24, 2020
Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre
Simran Syal1, Sudha Rao1, Rajesh Joshi1
1Department of Pediatrics, Division of Pediatric Endocrinology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India.
Insights
Early detection and aggressive treatment of primary dyslipidaemia in children can significantly improve outcomes. Aggressive management of inherited lipid disorders in pediatric patients leads to better short-term results.
Area of Science:
- Pediatric Endocrinology
- Cardiovascular Genetics
- Metabolic Disorders
Background:
- Primary dyslipidaemia in children is a rare inherited disorder impacting lipoprotein metabolism, often leading to severe complications.
- Long-term outcome data and the use of lipid-lowering drugs in pediatric populations are limited.
- Understanding the clinical profile and treatment response in Indian children with primary dyslipidaemia is crucial.
Purpose of the Study:
- To investigate the clinical and laboratory characteristics of primary dyslipidaemia in Indian children.
- To evaluate the response to treatment and short-term outcomes in this pediatric cohort.
- To assess the effectiveness of early detection and aggressive management strategies.
Main Methods:
- Retrospective analysis of clinical records for children diagnosed with primary dyslipidaemia over nine years.
- Inclusion of historical details, examination findings, and laboratory/radiological evaluations.
- Cascade screening of family members and regular 3-6 monthly follow-ups for clinical and laboratory assessments.
- Implementation and modification of diet and lipid-lowering drug therapy as needed.
Main Results:
- Nine children presented with various phenotypes including homozygous familial hypercholesterolaemia (HoFH), familial hypertriglyceridaemia (FHT), familial combined hyperlipidemia (FCH), and chylomicronaemia syndrome.
- Chief presenting features included xanthomas, recurrent pancreatitis, and incidental biochemical abnormalities.
- All patients received medical nutrition therapy and lipid-lowering drugs, showing decreased lipid levels, with normalization in two cases.
- Follow-up revealed no deaths or new symptoms, though one late-presenting child developed carotid artery atherosclerotic plaques despite treatment adherence.
Conclusions:
- Early detection and aggressive treatment of primary dyslipidaemia in children can lead to improved short-term outcomes.
- Aggressive management, including diet and pharmacotherapy, is effective in controlling lipid levels and preventing immediate complications.
- Prompt intervention is key to mitigating the severe sequelae associated with inherited lipid disorders in pediatric patients.
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.
Related Concept Videos
01:24Overview of Lipid Metabolism
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
01:25Blood Studies for Cardiovascular System III: Serum Lipid Profile
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
01:20Lipid-Lowering Drugs: Statins and Miscellaneous Agents
01:20Inborn Errors of Metabolism
01:24Lipid Absorption
These breakdown products bind with bile salts and lecithin to form micelles, which quickly pass between microvilli to come in close contact with the apical...
01:24Chronic Kidney Disease II: Clinical Manifestations