Hello, I would like the group's input on a patient of mine with hyperalphalipoproteinemia. 9 yo male with, BMI 12 kg/m2 (weight 10th percentile and height 60th percentile), had a routine lipid screen by pcp that showed TC- 223 and HDL > 100. Fasting lipid panel - TC- 184, HDL-C- 108, TG- 40, LDL-C- 68. Family is Chinese origin, no family history of early cardiovascular disease, father had high TG's on his lipid panel and reported that his HDL-C was 60. I was looking at causes of high HDL-C and found- familial CETP deficiency, familial hepatic lipase deficiency, upregulation of Apo A1. There have been reports of premature corneal opacity in familial CETP deficiency. Also there have been studies of increased carotid IMT and subclinical atherosclerosis with elevated HDL-C levels. I would appreciate input from the group regarding testing for any of these conditions, determining if this is dysfunctional HDL and what to look out for clinically.
Attending physician, Pediatric Endocrinology
Connecticut Children's Medical Center.