a 12-year - old male , whose father was a ldl receptor ( ldl - r ) mutation carrier , developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas . both his parents had elevated levels of total serum cholesterol and ldl cholesterol .
his elder brother died of myocardial infarction secondary to fh at the age of 7 years .
physical examination showed the presence of subcutaneous yellow nodules at the knuckles of his fingers [ fig .
some other yellow nodules of varying sizes under the skin erupted over the buttocks [ fig .
the ocular exam revealed a partial circumferential white - grey deposit corresponding to corneal arcus [ fig .
b - scan revealed extensive plaques and enhanced intima - media thickness of common carotid arterial wall .
laboratory studies disclosed the following values : total serum cholesterol , 752.1 mg / dl ( normal range , 110 - 220 mg / dl ) ; triglyceride , 96.6 mg / dl ( normal range , 50 - 150 mg / dl ) ; ldl cholesterol , 661.3 mg / dl ( normal range , 80 - 140 mg / dl ) .
findings were consistent with type iia hyperlipoproteinemia . as is shown in the figure [ fig .
3 ] , there are cytosine ( c)>thymine ( t ) heterozygous double peaks at 97 in the second exon of ldl - r gene , which is in genbank as a known mutation of nm_001195798.1:c .
this mutation resulted in the change from c to t 33 codon in e2 of ldl - r gene and , thus , glutamine became the stop codon in the corresponding amino acid ( np_001182732.1:p.gln33x ) .
findings at presentation ( a ) xanthomas over the fingers ( b ) xanthomas over both elbows(c ) xanthomas over both knees tending to coalesce ( d ) xanthomas over the achilles tendons ( e ) xanthomas of varying sizes under the skin erupted over the buttocks findings at presentation .
the ocular exam showed a partial circumferential ( from 2 oclock to 4 oclock ) white - grey deposit corresponding to corneal arcus .
( a ) right eye the ocular exam showed a partial circumferential ( from 2 oclock to 4 oclock ) white - grey deposit corresponding to corneal arcus .
there are c > t heterozygous double peaks at 97 in the second exon of ldl - r gene homozygous fh is clinically characterized by cutaneous xanthomas , enlarged achilles tendons , atherosclerosis , and corneal arcus , usually developing from early childhood .
although no significant correlations were obtained between corneal arcus and patterns of hyperlipoproteinaemia in previous observations , a recent study of homozygous familial hypercholesterolemia series indicated that patients with corneal arcus had higher cholesterol - year score and was correlated with calcific atherosclerosis .
one explanation is the proximity to limbal vasculature that may increase endothelial permeability to lipids via active scavenging mechanisms .
another is the temperature gradient that can alter lipid deposition as the infiltrating particles pass from limbal blood vessel into the cornea .
early combination therapy with ldl apheresis , statins , and cholesterol absorption inhibitors are advised in children with homozygous fh at the highest risk .
 we report the case of a 12-year - old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas . 
 the lesions appeared over his fingers , hands , elbows , knees , buttocks and feet . 
 laboratory studies showed a total serum cholesterol level of 752.1 mg / dl ; a triglyceride level of 96.6 mg / dl ; a low - density lipoprotein cholesterol level of 661.3 mg / dl . 
 findings were consistent with homozygous familial hypercholesterolemia . to our knowledge , this is the first such case to be reported from china . 
Case Report