Genes and environment determine survival in familial hypercholesterolaemia

The risk of early death and premature cardiovascular disease in familial hypercholesterolaemia may have been overestimated because previous studies have looked only at patients and families who sought medical attention. Sijbrands et al (p 1019) traced all members of a Dutch pedigree dating from 1800 to 1989 and calculated their risk of death. They found that many untreated patients had normal life spans. The variation in mortality, they conclude, suggests that outcome is determined by complex interaction between genetic and environmental factors.

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Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study • Commentary: Role of other genes and environment should not be overlooked in monogenic disease

Eric J G Sijbrands, Rudi G J Westendorp, Joep C Defesche, Paul H E M de Meier, Augustinus H M Smelt, John J P Kastelein, and Jaakko Kaprio
BMJ 2001 322: 1019-1023. [Abstract] [Full Text] [PDF]