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BMJ. 2001 Apr 28;322(7293):1019-23.

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study.

Author information

1
Department of Vascular Medicine and General Internal Medicine, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands. mrexpert@euronet.nl

Abstract

OBJECTIVE:

To estimate all cause mortality from untreated familial hypercholesterolaemia free from selection for coronary artery disease.

DESIGN:

Family tree mortality study.

SETTING:

Large pedigree in Netherlands traced back to a single pair of ancestors 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 during the 19th and early 20th century; it rose after 1915, reached its maximum between 1935 and 1964 (standardised mortality ratio 1.78, 95% confidence interval 1.13 to 2.76; P=0.003), and fell thereafter. Mortality differed significantly between two branches of the pedigree (relative risk 3.26, 95% confidence 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 branches of the pedigree points to a strong interaction with environmental factors. Future research is required to identify patients with familial hypercholesterolaemia who are at extreme risk and need early and vigorous preventive measures.

PMID:
11325764
PMCID:
PMC31037
[Indexed for MEDLINE]
Free PMC Article

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