Familial combined hyperlipidemia in a North Indian kindred

Area of Science:

• Genetics
• Cardiovascular Medicine
• Metabolic Disorders

Background:

• Familial combined hyperlipidemia (FCH) is the most prevalent genetic hyperlipidemia, strongly linked to premature coronary artery disease.
• Genetic heterogeneity and lack of a definitive diagnostic marker complicate FCH diagnosis.
• Understanding the genetic basis and clinical manifestations of FCH is crucial for early intervention.

Observation:

• A North Indian kindred spanning three generations presented with a pattern suggestive of autosomal dominant inheritance of combined dyslipidemia.
• The proband, a 4-month-old male, was incidentally found to have lipaemic serum, leading to further evaluation.
• Lipaemia retinalis was observed in the infant, while xanthomas and coronary artery disease were absent in the kindred.

Findings:

• All affected individuals exhibited combined dyslipidemia, characterized by elevated total cholesterol (predominantly LDL) and triglycerides.
• The proband and his maternal grandmother displayed an atherogenic lipoprotein phenotype.
• Dietary therapy proved ineffective in the proband, highlighting potential challenges in management.

Implications:

• This case report underscores the complex genetic nature of familial combined hyperlipidemia.
• The failure of dietary therapy in the proband suggests the need for alternative or advanced therapeutic strategies.
• Further research into novel treatment options is warranted for effective management of FCH and prevention of cardiovascular complications.