Cholesterol esterification disorder
Overview
The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of sphingomyelinase activity prompted us to examine the capacity of cultured human Niemann-Pick fibroblasts to esterify exogenously derived cholesterol. Cholesterol was supplied to cell cultures in the form of native or chemically modified, positively charged low density lipoprotein or as non-lipoprotein cholesterol.
Symptoms
The most common dermatologic manifestation of dyslipidemia is xanthomas. These firm and nontender cutaneous deposits of cholesteryl ester-enriched foam cells are most commonly observed with high levels of LDL. Xanthomas deposit in ligaments and tendons, although they may also be detected in periosteum and fascia. They are classified as tendinous, tuberous, tuberoeruptive, and planar.
Diagnosis
First, your doctor will most likely perform a physical exam and draw blood to rule out other conditions, such as pregnancy and thyroid disease. He or she may also order a test to measure your estradiol levels. Low levels of estradiol, a form of estrogen, can indicate that your ovaries are starting to fail. When estradiol levels are below 36, it may signal that you are in menopause.