Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant inherited metabolic disease with a prevalence of 1 in 500 in most Western countries. People with FH experience an increased risk for coronary artery disease (CAD) and excess mortality especially at a young age. Until recently the diagnosis of FH was based on clinical signs and symptoms alone. These included increased cholesterol concentrations, in particular of LDL-cholesterol, in combination with the presence of tendon xanthoma, corneal arcus, xanthelasmata and a history of early CAD. Frequently FH was diagnosed after a first cardiac event.@en

Objectives: To assess the screenees' views on, and the psychological impact of, a family-based genetic screening programme for familial hypercholesterolaemia (FH) and to evaluate non-participation. Methods: Self-administered questionnaires were filled out at the time of screening and after communication of the test result. Non-participants were interviewed by phone. Results: Of the people approached for screening, 2% did not participate. These 2% were not interested, had already been clinically diagnosed, or were afraid of insurance consequences. 677 screenees participated, of whom 215 (32%) tested FH positive. Less than 5% of the screenees were critical of the approach and the information provided. 20% of the screenees expressed feelings of social pressure. Effects on mood were minimal to absent, as were general 'quality of life' effects. Conclusions: Screening for FH is highly acceptable to screenees, although social pressure is prevalent. Only a small percentage of people being approached did not participate.

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The quality of life (QoL) of survivors of a myocardial infarction (MI) remains lower than that of their peers long after the acute event. Previous research on this subject has indicated, however, that this difference might lessen somewhat over time for the dimension 'emotional functioning' (as measured by the sickness impact profile (SIP): A generic instrument for QoL). The present study explores this phenomenon further using two instruments that specifically measure emotional functioning i.e. the hospital anxiety and depression scale (HAD) and the heart patients psychological questionnaire (HPPQ). Ninety-nine participants of a large population-based cohort (the Rotterdam study), who had been admitted to the hospital because of an MI in the previous 6-60 months, and 101 reference subjects, without a history of infarction of heart or brain, from the same age and gender-groups, were interviewed twice (at 1- to 3-year time intervals). The results of the present study confirm earlier findings that the emotional functioning (in terms of 'anxiety', 'depression', 'well-being', 'feeling disabled', and 'displeasure') of MI survivors is impaired when compared to their unaffected peers. Moreover, they did not show any improvement in 'anxiety', 'depression', 'well-being' and 'displeasure' over time in the MI survivors. The results did, however, show that the difference between MI survivors and referents became less in time in the dimension 'feeling disabled'. This decrease was partly because MI survivors improved and partly because referents felt more disabled over time. One explanation for this might be that referents (51% aged 70 years and over) had difficulties in adapting emotionally to decreasing levels of physical functioning with increasing age, while the MI survivors tended to adjust to and accept the impairments they had contracted several years earlier.@en