Schaefer - Figure 8 - Hypercholesterolemic eyes
This Figure shows photographs of eyes from different cases of patients
with very low serum HDL cholesterol levels.
- In the upper left: a patient with no detectable apoA-I lipoprotein, but normal LDL and triglyceride levels; the patient has a very, very low HDL cholesterol level of 1 mg/dL; and at the very edge of the colored part of the eye cholesterol deposition is evident; this patient developed premature CHD at the age of 38. .
- In the upper right: a patient with Tangier disease; the HDL cholesterol
level was 4 mg/dL and apoA-I levels were a very low 3 mg/dL. The
LDL cholesterol level was low, at 52 mg/dL, and there were slightly
elevated triglycerides. This patient developed heart disease at 56,
and the defect here is lack of ABCA1 transport function, as well as
lack of apoA-I – underlining the need for both apoA-I production and
ABCA1 transporter to be able to generate HDL particles.
- In the lower left: a patient with L-CAT deficiency. This
is a deficiency in the enzyme that transfers fatty acids from phospholipid
to cholesterol, and the result, if a patient cannot esterify cholesterol,
is a diffusely severe corneal opacification, even though vision is retained.
These patients get premature kidney disease but not, apparently, premature
CHD; their serum HDL cholesterol level is usually around 8-9 mg/dL, with
apoA-I levels around 30, with relatively modest elevations in total cholesterol
and triglycerides.
This list reveals that the patterns of dyslipidemia in these 3 kinds of patients are all quite different, and the resulting clinical phenotype and diseases that result are also quite different.
- In the lower right: for comparison with the preceding examples,
this is a patient with familial hypercholesterolemia (FH), very high
serum LDL cholesterol levels, with arcus senilis (a term coined by the
Romans meaning the “ring of senility,” but it is really cholesterol
deposition as a ring around the edge of the eye), and it can be seen
that the cholesterol deposition is not in exactly the same location as
in apoA-I deficiency (upper left-hand corner); rather, it is a little
further in – and that is an interesting difference.
Schaefer E.
J Clin Lipidol.
2011; 5(6).
