Potter J M, Macdonald W B
Aust N Z J Med. 1979 Dec;9(6):688-93. doi: 10.1111/j.1445-5994.1979.tb04201.x.
Primary Type I Hyperlipoproteinaemia is the rarest phenotype of the inherited hyperlipidaemias. A study of the plasma lipids, lipoprotein distribution and apoprotein concentrations has been carried out in a propositus and in three generations of her immediate family, as has associated post heparin lipolytic activity (PHLA). The propositus presented in infancy with spontaneous bruising and abdominal pain. She has gross chylomicronaemia in the presence of depressed PHLA, which is due to deficiency of lipoprotein lipase. Apo Al and B levels are depressed in concert with low density and high density lipoproteins. Introduction of a low fat diet has resulted in loss of symptoms but plasma lipids remain abnormal. Within her immediate family, six of nine members have depressed PHLA. Two such members have elevated plasma triglycerides, one associated with hypercholesterolaemia and peripheral vascular disease. Low PHLA in this family is then associated with different lipoprotein phenotypes.
原发性I型高脂蛋白血症是遗传性高脂血症中最罕见的表型。对一名先证者及其直系家族的三代成员进行了血浆脂质、脂蛋白分布和载脂蛋白浓度的研究，同时也研究了肝素后脂解活性（PHLA）。该先证者在婴儿期出现自发性瘀伤和腹痛。她在PHLA降低的情况下出现严重的乳糜微粒血症，这是由于脂蛋白脂肪酶缺乏所致。载脂蛋白A1和B水平与低密度和高密度脂蛋白一起降低。采用低脂饮食后症状消失，但血浆脂质仍异常。在她的直系家族中，九名成员中有六名PHLA降低。其中两名成员血浆甘油三酯升高，一名与高胆固醇血症和外周血管疾病有关。这个家族中PHLA降低与不同的脂蛋白表型有关。
