Familial hyperlipidaemia in Malaysian children

Area of Science:

• Pediatric Endocrinology
• Cardiovascular Genetics
• Metabolic Disorders

Background:

• Familial hyperlipidaemia (FH) encompasses genetic disorders causing extremely high blood lipid levels.
• Paediatric FH is rare but can lead to severe cardiovascular complications, including premature death.
• This study examines two distinct paediatric FH cases, highlighting diagnostic and management challenges.

Purpose of the Study:

• To present two unique cases of paediatric familial hyperlipidaemia.
• To discuss the clinical presentation, diagnostic workup, and management strategies for severe childhood lipid disorders.
• To emphasize the importance of early diagnosis and intervention in paediatric hyperlipidaemia.

Main Methods:

• Case report of an 11-year-old boy with homozygous familial hypercholesterolaemia (Type II).
• Case report of a 2.5-year-old girl with severe hypertriglyceridaemia, presenting with Type V lipoproteinaemia characteristics.
• Family lipid profiling and genetic analysis (including post-hepatic lipase activity, Apo C II, and Apo E phenotype) were performed.

Main Results:

• The boy with homozygous hypercholesterolaemia experienced severe xanthomatosis, cardiac events, and died at 15 despite treatment.
• The girl presented with severe hypertriglyceridaemia (14.8 mmol/l) and hypercholesterolaemia (6.2 mmol/l), exhibiting a Type V lipoprotein pattern with low post hepatic lipase activity and specific Apo phenotypes.
• Family screening revealed hypertriglyceridaemia in relatives, ruling out Type I lipoprotein inheritance.

Conclusions:

• Paediatric familial hyperlipidaemia, even in rare homozygous forms or atypical presentations like Type V, poses a significant threat.
• Aggressive management and timely intervention are critical for improving outcomes in affected children.
• Further research into genetic factors and treatment modalities for paediatric hyperlipidaemia is warranted.