J Korean Soc Endocrinol.  1999 Jun;14(2):418-424.

One Family of Familial Combined hyperlipidemia Associated with Various Metabolic Abnormalities

• Lee KW
• Lee SK
• Chung YS
• Kim HM
• Kim YJ
• Hong EK
• Chae BN
• Park JW

Abstract

Familial combined hyperlipidemia is one af the manogenic disorders frequently found in humans and is seen in 0.5~2% of the general populatian, accounting for at least 10% of persons with pemature atlmmcletusis. The distinguishing feature of familial combined hyperlipidemia, in camparison with other single-gene abnarmalities of lipoprotein metabolism, is that not all affected members have the same plasma lipid phenotype; some individuals have an elevation of cholesterol concentration alane(type IIa lipoprotein pattern), while some athers have an elevation of triglyceride concentration alone(type IV pattem), and still others have elevations of both values(type IIb pattem). In any one persan, the lipid phenotype can change as a result of dietary or drug treatment. Familial combined hyperlipidemia should be suspected in those subjects with moderate hypertriglyceridemia and/or moderate hypercholestaolemia (lipoprotein types IIa, Ilb, IV), especially when premature coronary heart disease is evident in the family histary. Low plasma HDL-cholesterol, obesity, insulin resistance and hyperuricemia are often . Family members affected by familial combined hyperlipidemia should be identified and be treated, since tbe condition is associated with premature caronary heart diasease. We have found one family of familial combined hyperlipidemia with one member(case 1) associated with insulin resistance, hyperuricemia and gout, and another member(case 2) associated with diabetes mellitus and infertiTity.

MeSH Terms

Cholesterol
Coronary Disease
Diabetes Mellitus
Gout
Heart
Humans
Hyperlipidemia, Familial Combined*
Hypertriglyceridemia
Hyperuricemia
Insulin Resistance
Lipoproteins
Metabolism
Obesity
Phenotype
Plasma
Triglycerides
Cholesterol
Lipoproteins