DOCUMENTED NEED FOR MORE EFFECTIVE DIAGNOSIS AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLEMIA ACCORDING TO DATA FROM 502 HETEROZYGOTES IN UTAH

A project to help Utah residents with heterozygous familial hyperchole sterolemia (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 arte ry disease, and strong positive family history); (2) confirmed FH inde x cases from a university lipid clinics; and (3) relatives of any conf irmed FH cases. Questionnaires were received from 2,143 persons identi fying 101 living index cases and 502 relatives meeting the criteria fo r the diagnosis of FH. Finding new FH heterozygotes was about one four th as expensive by tracing relatives of confirmed FH cases by evaluati ng 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 cholester ol-lowering prescription medication, and only 23% had reasonably contr olled cholesterol levels (below the 90th percentile). However, the dat a also suggest that good control is achievable in motivated patients. Among 106 FH heterozygotes who were early responders to a second follo w-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 conclu de that most patients with heterozygous FH are not diagnosed and not a dequately treated. We demonstrated how many of these persons needing h elp could be identified efficiently by tracing relatives of known inde x cases.