Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years

Shivani Deswal*, Akshay Kapoor, Anupam Sibal, Vikas Kohli

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Familial hypercholesterolaemia (FH) is an autosomal dominant lipid disorder. Homozygous FH (HFH), though rare, presents in early childhood. Two different presentations of HFH are reported. The first child presented at 5 years of age with xanthomas on the knees, elbows and buttocks and failure to thrive since the second year of life. He was found to be hypertensive with moderate aortic regurgitation. He is now stable on statins and antihypertensives. The second child presented at 10 years of age with multiple xanthomas and severe aortic stenosis. He died of refractory cardiac failure despite emergency aortic balloon valvoplasty due to diffuse coronary artery disease. Strong clinical suspicion can aid early diagnosis and delay cardiovascular complications.

Original languageEnglish
Pages (from-to)308-311
Number of pages4
JournalPaediatrics and International Child Health
Issue number4
Publication statusPublished - 2016
Externally publishedYes


  • Familial
  • Homozygous
  • Hypercholesterolaemia
  • Low-density level cholesterol


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