Ejg. Sijbrands et al., Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study, BR MED J, 322(7293), 2001, pp. 1019-1022
Citations number
21
Categorie Soggetti
General & Internal Medicine","Medical Research General Topics
Objective To estimate all cause mortality from untreated familial hyperchol
esterolaemia free from selection for coronary artery disease.
Design Family tree mortality study S
Setting Large pedigree in Netherlands traced back to a single pair of ances
tors in the 19th century.
Subjects All members of pedigree aged over 20 years with 0.5 probability of
carrying a mutation for familial hypercholesterolaemia.
Main outcome measure All cause mortality.
Results A total of 70 deaths took place among 250 people analysed for 6950
person years. Mortality was not increased in carriers of the mutation durin
g the 19th and early 20th century; it rose after 1915, reached its maximum
between 1935 and 1964 (standardised mortality ratio 1.78, 95% confidence in
terval 1.13 to 2.76; P = 0.003), and fell thereafter. Mortality differed si
gnificantly between two branches of the pedigree (relative risk 3.20, 95% c
onfidence interval 1.74 to 6.11; P = 0.001).
Conclusions Risk of death varies significantly among patients with familial
hypercholesterolaemia. This large variability over time and between branch
es of the pedigree points to a strong interaction with environmental factor
s. Future research is required to identify patients with familial hyperchol
esterolaemia who are at extreme risk and need early and vigorous preventive
measures.