Neil H A W, Huxley R R, Hawkins M M, Durrington P N, Betteridge D J, Humphries S E
Division Public Health and Primary Health Care, Institute for Health Sciences, University of Oxford, Headington, Oxford, UK.
Atherosclerosis. 2003 Sep;170(1):73-8. doi: 10.1016/s0021-9150(03)00233-8.
A clinical diagnosis of familial hypercholesterolaemia (FH) is often made in the absence of tendon xanthomata (TX), which are not usually present before the fourth decade of life. The prognosis of treated non-xanthomatous (TX-) FH is uncertain and the objective of this study was to compare mortality from coronary heart disease (CHD) in patients with treated TX+ (definite) and TX- (possible) heterozygous FH.
A diagnosis of definite or possible FH was based on raised cholesterol levels (>7.5 mmol/l) and a family history of premature CHD or hypercholesterolaemia. Patients were recruited from 21 outpatient lipid clinics in the UK from 1980 to 1998. The cohort of 1569 patients with TX+ FH were followed for 12754 person years and the cohort of 1302 patients with TX- FH for 10238 person years. The standardised mortality ratio (SMR) was calculated from the ratio of the number of deaths observed to the number expected in the general population of England and Wales (SMR=100 for reference population).
CHD accounted for 64 (63%) of the 102 deaths in the TX+ cohort and 38 (57%) of the 67 deaths in the TX- cohort with the SMR for a fatal coronary event being, respectively, 294 (95% confidence interval 228, 380, P<0.00001) and 205 (95% CI 145, 282, P=0.0001). The similarly elevated CHD mortality risk suggests that, in adulthood, both groups of patients should be treated equally aggressively with HMG Co A reductase inhibitors (statins).
家族性高胆固醇血症（FH）的临床诊断通常在没有肌腱黄色瘤（TX）的情况下做出，而肌腱黄色瘤通常在生命的第四个十年之前不会出现。经治疗的非黄色瘤性（TX-）FH的预后尚不确定，本研究的目的是比较经治疗的TX+（确诊）和TX-（可能）杂合子FH患者冠心病（CHD）的死亡率。
确诊或可能的FH诊断基于胆固醇水平升高（>7.5 mmol/l）以及早发性CHD或高胆固醇血症的家族史。1980年至1998年期间，从英国21家门诊脂质诊所招募患者。1569例TX+ FH患者的队列随访了12754人年，1302例TX- FH患者的队列随访了10238人年。标准化死亡率（SMR）根据观察到的死亡人数与英格兰和威尔士一般人群预期死亡人数的比率计算（参考人群的SMR = 100）。
在TX+队列的102例死亡中，CHD占64例（63%），在TX-队列的67例死亡中，CHD占38例（57%），致命性冠状动脉事件的SMR分别为294（95%置信区间228, 380，P<0.00001）和205（95% CI 145, 282，P = 0.千分之一）。CHD死亡风险同样升高表明，在成年期，两组患者都应同样积极地接受HMG Co A还原酶抑制剂（他汀类药物）治疗。
