Schaefer - Figure 8 - Hypercholesterolemic eyes Text
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.