Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah

Roger R. Williams, M. Catherine Schumacher, Gary K. Barlow, Steven Hunt, Joan L. Ware, Michael Pratt, Barbara D. Latham

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

A project to help Utah residents with heterozygous familial hypercholesterolemia (FH) identified affected individuals by collecting detailed questionnaires from: (1) very high-risk persons in computer files of screening data (very high cholesterol levels, very early coronary artery disease, and strong positive family history); (2) confirmed FH index cases from a university lipid clinic; and (3) relatives of any confirmed FH cases. Questionnaires were received from 2,143 persons identifying 101 living index cases and 502 relatives meeting the criteria for the diagnosis of FH. Finding new FH heterozygotes was about one fourth as expensive by tracing relatives of confirmed FH cases by evaluating very high-risk persons. Of those meeting criteria for the diagnosis of heterozygous FH, only 31% reported being told by their physicians that they had FH, only 42% indicated that they were taking a cholesterol-lowering prescription medication, and only 23% had reasonably controlled cholesterol levels (below the 90th percentile). However, the data also suggest that good control is achievable in motivated patients. Among 106 FH heterozygotes who were early responders to a second follow-up questionnaire, 79% were taking prescription medications, of whom 49% had achieved cholesterol levels below the 90th percentile, and 17% even achieved cholesterol levels below the 50th percentile. We conclude that most patients with heterozygous FH are not diagnosed and not adequately treated. We demonstrated how many of these persons needing help could be identified efficiently by tracing relatives of known index cases.

Original languageEnglish
JournalThe American Journal of Cardiology
Volume72
Issue number10
DOIs
Publication statusPublished - 30 Sep 1993
Externally publishedYes

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Hyperlipoproteinemia Type II
Heterozygote
Cholesterol
Therapeutics
Prescriptions
Information Storage and Retrieval
Hypercholesterolemia
Coronary Artery Disease
Physicians
Lipids

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. / Williams, Roger R.; Schumacher, M. Catherine; Barlow, Gary K.; Hunt, Steven; Ware, Joan L.; Pratt, Michael; Latham, Barbara D.

In: The American Journal of Cardiology, Vol. 72, No. 10, 30.09.1993.

Research output: Contribution to journalArticle

Williams, Roger R. ; Schumacher, M. Catherine ; Barlow, Gary K. ; Hunt, Steven ; Ware, Joan L. ; Pratt, Michael ; Latham, Barbara D. / Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. In: The American Journal of Cardiology. 1993 ; Vol. 72, No. 10.
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