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Corneal arcus, xanthogranuloma removed, very low blood cholesterol, genetic lipid disorder?

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General & Family Physician
Practicing since : 2003
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I'm 26 5'10" 202 pounds. I haven't really had any health issues in the past. I have a corneal arcus in both eyes and had a xanthogranuloma removed from my chin earlier this year. I just got my blood lipid panel back and my total cholesterol is below 70 and my HDL is reported as <3. I had this retested and received the same results. I'm very concerned and my PCP is on vacation.
Posted Thu, 12 Apr 2012 in Cholesterol
Answered by Dr. Deepak Anvekar 9 hours later
Hello and thanks for the query,

HDL levels are said to be low when it is less than 40 mg/dL or about 1 mmol/L.

The normal Serum cholesterol levels - should be less than 100 mg /dl ( Your levels are acceptable, but generally lower for a person who had a xanthogranuloma).

The normal HDL levels should be above 60 mg/dl. It is abnormal if it is less than 40 mg/dl.

Since you have not mentioned, I would assume that the levels mentioned are in mmol/L.

Presence of low blood cholesterol, Low HDL levels as well as corneal arcus and xanthogranuloma could be a indicator of genetic (familial) lipid disorder, specifically familial LCAT deficiency

Lecithin-cholesterol acyltransferase (LCAT) is an enzyme bound to HDLs and LDLs in the plasma. LCAT helps in the formation of cholesterol esters in lipoproteins.

In patients with familial LCAT deficiency, symptoms are related to anemia, corneal opacities (corneal arcus), renal insufficiency, and atherosclerosis (rarely)

Here are some of the findings of this condition: -

1. Low concentrations of HDL cholesterol (generally < 10 mg/dL)
2. High concentrations of plasma unesterified (free) cholesterol
3. Low concentrations of plasma cholesterol ester (Your levels mentioned as 70 mg /dl)
4. Elevated very LDL and triglyceride levels
5. Negligible plasma LCAT activity -
6. Negligible plasma cholesterol esterification rate

A definitive diagnosis of this condition requires mutational analysis of the LCAT gene and a functional analysis of the mutated gene product.

The treatment for this condition includes treatment for anemia, renal insufficiency, and atherosclerosis and any other issues present.

You might consult your primary doctor who can examine you and evaluate with above tests mentioned above.

In addition a few of the following tests will also help -
1. complete blood count
2. Renal and liver function tests
3. liver ultrasound - to check the status of the liver ( to rule out hepatomegaly)
4. 24-hour urine protein levels, and
5. creatinine clearance.

I hope this helps to answer your questions.

Please feel free to consult me for any doubts or other medical questions.


Dr. Anvekar.

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