Screening for familial hypercholesterolaemia

BMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7293.1061/a (Published 28 April 2001) Cite this as: BMJ 2001;322:1061

Funding is difficult to obtain but screening can be international

  1. Brian Tomlinson, professor (btomlinson@cuhk.edu.hk),
  2. Irene Wei Lan, research assistant,
  3. Ian Hamilton-Craig, chairman, MEDPED (Asia-Pacific)
  1. Division of Clinical Pharmacology, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong Special Administrative Region, China
  2. North Adelaide, South Australia 5006, Australia
  3. Royal Group of Hospitals and Dental Health and Social Services Trust, Royal Victoria Hospital, Belfast BT12 6BA
  4. Royal Victoria Hospital, Belfast BT12 6BA
  5. Department of Medical Genetics, City Hospital, Belfast BT9 7AB

    EDITOR—Bhatnagar et al highlighted the cost effective approach of screening family members of probands with the dominant condition of familial hypercholesterolaemia to identify affected relatives at high risk for atheromatous vascular disease.1 We would like to raise three additional points.

    Firstly, patients with clinical features of familial hypercholesterolaemia are often not given an accurate diagnosis unless they come to the attention of a physician interested in lipid disorders. Examination of the Achilles tendons for xanthoma is often overlooked during the routine physical examination, even in patients with very high plasma concentrations of cholesterol and obvious xanthelasmata or prominent premature corneal arcus, so that the precise clinical diagnosis of familial hypercholesterolaemia, with the implications for family screening, may not be made.

    Even cardiologists who have a direct interest in the consequences of the disease may not diagnose it because of a preoccupation with the acute events, intervention procedures, and rapid transfer or discharge of patients before plasma concentrations of cholesterol are available.2 All doctors should therefore be aware of …

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