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March 10, 1997

Patients' Attitudes Toward Detection of Heterozygous Familial Hypercholesterolemia

Author Affiliations

From the Department of Medicine and Cardiology, Aarhus Amtssygehus University Hospital (Drs Andersen, Jensen, and Faergeman) and the Department of Social Medicine and Epidemiology, Faculty of Health Sciences, University of Aarhus (Dr Juul), Aarhus, Denmark.

Arch Intern Med. 1997;157(5):553-560. doi:10.1001/archinte.1997.00440260117015

Background:  Molecular biology has improved the diagnostic abilities of physicians and enabled them to identify apparently healthy persons with a high risk of genetic disease.

Objective:  To examine the attitudes toward detection of disease and the present well-being in persons at risk of disease with a modifiable outcome, in this case heterozygous familial hypercholesterolemia (FH) and their hypercholesterolemic relatives.

Materials and Methods:  A questionnaire was developed that collected information on the impact on well-being at present and at the time of diagnosis of hypercholesterolemia and on attitudes toward screening family members for heterozygous FH. It was mailed to 62 index patients with heterozygous FH, which was defined by using clinical criteria, and 108 hypercholesterolemic relatives. The response rate was 88%. Results were related to demographic data, experience of psychological or physiologic reactions in relation to awareness of hypercholesterolemia, cardiovascular symptoms, lipidlowering drug treatment, and information on the DNA-based diagnosis.

Results:  Of the respondents, anxiety was expressed by 44%, fear of coronary heart disease by 37%, and diminished well-being by 13%. These findings were most pronounced in persons who had experienced physiologic or psychological reactions at the time of diagnosis of hypercholesterolemia or who already had heart disease. Six percent regretted that they were aware of their disease diagnosis, and 84% were in favor of screening for affected individuals in families with a history of heterozygous FH.

Conclusions:  The results indicated that a substantial proportion of persons with heterozygous FH had some degree of anxiety. A small minority regretted that they were informed of the diagnosis of heterozygous FH, however, and a majority were in favor of family screening for heterozygous FH.Arch Intern Med. 1997;157:553-560