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Atherosclerosis. 2014 Jun;234(2):469-72. doi: 10.1016/j.atherosclerosis.2014.04.002. Epub 2014 Apr 14.

Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner.

Author information

  • 1School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia. Electronic address: damon.bell@health.wa.gov.au.
  • 2School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
  • 3Department of Clinical Biochemistry, St John of God Pathology, Osborne Park, Australia.
  • 4Familial Hypercholesterolaemia Western Australia Program, University of Western Australia, Perth, Australia.
  • 5Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia; School of Surgery, University of Western Australia, Perth, Australia.
  • 6School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, Perth, Australia.
  • 7School of Medicine and Pharmacology, University of Western Australia, Perth, Australia; Department of Clinical Biochemistry, PathWest Royal Perth Hospital, Perth, Australia.

Abstract

OBJECTIVE:

To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH.

METHOD:

Individuals with an LDL-cholesterol ≥ 6.5 mmol/L without secondary causes were identified from a community laboratory; 100 cases and 96 historical controls. All laboratory reports (cases and controls) received interpretative comments highlighting FH. In addition, the cases' GPs received a telephone call from the chemical pathologist to highlight their patient's risk of FH and suggest specialist referral, whereas with the controls' GPs were not telephoned.

RESULTS:

After 12 months follow-up, 27 (27%) cases were referred to clinic compared with 4 (4%) controls (p < 0.0001). 25 cases were reviewed at clinic, 12 (48%) had definite FH and 18 (72%) had probable or definite FH according to the Dutch Lipid Clinic Network Criteria, 2 cases did not attend their clinic appointments. Genetic testing was performed in 23 individuals: 7 (30%) had pathogenic FH mutations. Genotypic cascade screening of 4 kindreds from the intervention group detected an additional 7 individuals with FH and excluded 5 mutation-negative family members.

CONCLUSIONS:

A telephone call from a chemical pathologist to the requesting GP of patients at high risk of FH was associated with significantly higher rates of FH detection and specialist referral. Over 70% of individuals with an LDL-cholesterol ≥ 6.5 mmol/L were diagnosed with FH. However, further investigation is required to improve the relatively low referral rate.

Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

KEYWORDS:

Community laboratory; Detection; Familial hypercholesterolaemia; Opportunistic screening

PMID:
24814411
[PubMed - indexed for MEDLINE]
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