title: Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years.
abstract: 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.
authors.affiliation: a Department of Pediatrics , Postgraduate Institute of Medical Education and Research and Dr RML Hospital , New Delhi.
authors.forename: Shivani
authors.initials: S
authors.lastname: Deswal
authors.affiliation: b Departments of Pediatric Gastroenterology.
authors.forename: Akshay
authors.initials: A
authors.lastname: Kapoor
authors.affiliation: b Departments of Pediatric Gastroenterology.
authors.forename: Anupam
authors.initials: A
authors.lastname: Sibal
authors.affiliation: c Pediatric Cardiology and Cardiothoracic surgery, Apollo Centre for Advanced Pediatrics , Indraprastha Apollo Hospital , New Delhi , India.
authors.forename: Vikas
authors.initials: V
authors.lastname: Kohli
mesh_terms: D000959:Antihypertensive Agents / Q000627:therapeutic use; D001018:Aortic Diseases / Q000209:etiology* / Q000473:pathology* / Q000601:surgery; D063126:Balloon Valvuloplasty; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology*; D008297:Male; D014973:Xanthomatosis / Q000209:etiology* / Q000473:pathology*
chemical_list: D000959:Antihypertensive Agents; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors
keywords: Familial; Homozygous; Hypercholesterolaemia; Low-density level cholesterol