Burnett J R, Proos A L, Koutts J, Burnett L
Department of Clinical Chemistry, Westmead Hospital, NSW.
Med J Aust. 1993 Aug 16;159(4):272-4. doi: 10.5694/j.1326-5377.1993.tb137834.x.
To report a case of familial hypobetalipoproteinaemia in a woman who presented after the incidental finding of marked hypocholesterolaemia during laboratory tests.
An asymptomatic 37-year-old Lebanese woman presented to the lipid clinic with a serum total cholesterol concentration of 1.1 mmol/L, high density lipoprotein (HDL) cholesterol of 1.0 mmol/L, and triglycerides of 0.28 mmol/L. No secondary cause for the hypocholesterolaemia was established. INVESTIGATION AND OUTCOME: Her serum apolipoprotein B (apo B) levels were markedly reduced at 0.07 g/L. Except for one daughter (IV-4), all other family members including her husband (her first cousin) had apo B levels about 25% of normal. Daughter IV-4 had undetectable apo B levels. Family studies confirmed an autosomal dominant pattern of inheritance consistent with familial hypobetalipoproteinaemia.
Familial hypobetalipoproteinaemia is a rare condition that should be considered in the differential diagnosis of hypocholesterolaemia. Absence of clinical features, autosomal dominant pattern of inheritance, and reduced apo B levels suggest the diagnosis.
报告一例家族性低β脂蛋白血症病例，该患者因实验室检查偶然发现显著低胆固醇血症前来就诊。
一名无症状的37岁黎巴嫩女性到脂质门诊就诊，其血清总胆固醇浓度为1.1毫摩尔/升，高密度脂蛋白（HDL）胆固醇为1.0毫摩尔/升，甘油三酯为0.28毫摩尔/升。未发现低胆固醇血症的继发原因。
她的血清载脂蛋白B（apo B）水平显著降低，为0.07克/升。除一个女儿（IV-4）外，包括她丈夫（她的一级表亲）在内的所有其他家庭成员的apo B水平约为正常水平的25%。女儿IV-4的apo B水平检测不到。家族研究证实了与家族性低β脂蛋白血症一致的常染色体显性遗传模式。
家族性低β脂蛋白血症是一种罕见疾病，在低胆固醇血症的鉴别诊断中应予以考虑。无临床特征、常染色体显性遗传模式以及apo B水平降低提示了该诊断。
