Patsch W, Kuisk I, Glueck C, Schonfeld G
Arteriosclerosis. 1981 Mar-Apr;1(2):156-61. doi: 10.1161/01.atv.1.2.156.
Familial hyperalphalipoproteinemia is determined by a major gene and is characterized by high levels of high density lipoprotein cholesterol and longevity. To describe the plasma lipoproteins in this condition more completely, a kindred consisting of the proband, her affected father, add her two affected brothers was studied. Fasting plasmas were analyzed for lipoprotein lipids by combined preparative ultracentrifugal and precipitation methods. Levels of apolipoprotein A-1 and apolipoprotein A-11, the major apoproteins of high density lipoproteins, were assayed by radioimmunoassay. The flotation properties of very low density, low density and high density lipoprotein were determined by zonal ultracentrifugation, and the isolated high density lipoprotein subfractions were characterized according to their lipid and apoprotein compositions. Total cholesterol of all subjects was normal, but triglycerides were elevated (above the 90th percentile) in the two brothers. High density lipoprotein cholesterol ranged from 150 to 165 mg/dl in the proband and from 72 to 89 mg/dl in her relatives. Apolipoprotein A-1 was 318 mg/dl in the proband and 156 to 169 mg/dl in the siblings; respective apolipoprotein A-11 values were 67 and 82 to 83 mg/dl. The high density lipoprotein cholesterol and apolipoprotein A-1 and A-11 values for the relatives are above the 95th percentile for sex and age, while the levels of the proband are the highest recorded in our laboratories. On zonal ultracentrifugation, very low density lipoprotein and low density lipoprotein had normal flotation properties. High density lipoprotein was divisible into three populations, HDL2, HDL3L, and HDL3D (Sf(1,21,26 degrees C), 59, 2.9, and 1.7 respectively), each of which floated in its usual position. But HDL2 was grossly elevated, accounting for most of the rise in the high density lipoprotein fraction. The compositions of the high density lipoprotein fractions with respect to the major lipid and apoprotein classes did not differ from normal. Thus, in this kindred, high density lipoprotein was quantitatively rather than qualitatively unusual. It is of interest that hypertriglyceridemia and hyperalphalipoproteinemia coexisted in the siblings. These concurrent elevations differ from the expected reciprocal relationship between high density lipoprotein and very low density lipoprotein levels in plasma, and suggests that in some subject the two abnormalities may be independently transmitted.
家族性高α脂蛋白血症由一个主要基因决定，其特征是高密度脂蛋白胆固醇水平高且寿命长。为了更全面地描述这种情况下的血浆脂蛋白，对一个由先证者、她患病的父亲以及她的两个患病兄弟组成的家族进行了研究。通过联合制备超速离心和沉淀法分析空腹血浆中的脂蛋白脂质。通过放射免疫分析法测定高密度脂蛋白的主要载脂蛋白载脂蛋白A-1和载脂蛋白A-Ⅱ的水平。通过区带超速离心法测定极低密度脂蛋白、低密度脂蛋白和高密度脂蛋白的漂浮特性，并根据其脂质和载脂蛋白组成对分离出的高密度脂蛋白亚组分进行表征。所有受试者的总胆固醇正常，但两兄弟的甘油三酯升高（高于第90百分位数）。先证者的高密度脂蛋白胆固醇范围为150至165mg/dl，其亲属的范围为72至89mg/dl。先证者的载脂蛋白A-1为318mg/dl，其兄弟姐妹为156至169mg/dl；相应的载脂蛋白A-Ⅱ值分别为67和82至83mg/dl。亲属的高密度脂蛋白胆固醇以及载脂蛋白A-1和A-Ⅱ值高于性别和年龄的第95百分位数，而先证者的水平是我们实验室记录的最高值。在区带超速离心时，极低密度脂蛋白和低密度脂蛋白具有正常的漂浮特性。高密度脂蛋白可分为三个群体，HDL2、HDL3L和HDL3D（在1、21、26℃时的Sf分别为59、2.9和1.7），每个群体都漂浮在其通常的位置。但HDL2显著升高，占高密度脂蛋白部分升高的大部分。高密度脂蛋白部分关于主要脂质和载脂蛋白类别的组成与正常情况无差异。因此，在这个家族中，高密度脂蛋白在数量上而非质量上异常。有趣的是，兄弟姐妹中同时存在高甘油三酯血症和高α脂蛋白血症。这些同时升高的情况不同于血浆中高密度脂蛋白和极低密度脂蛋白水平之间预期的相反关系，这表明在某些个体中，这两种异常情况可能是独立遗传的。
