Screening for familial hypercholesterolaemia

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 the familial nature of this condition so that probands can be identified and referred to specialist lipid clinics or other facilities that can undertake family screening.

Secondly, although this type of screening is cost effective, it remains difficult to obtain funding.³ In Hong Kong we screened more than 300 family members of probands for a postgraduate degree study without any specific funding except for a research grant for genetic studies in a subgroup of these patients.⁴ Funding for such activities should be available from government health services as this saves costs in the long term, but many health service providers may not regard this as a priority, especially as the treatment of affected subjects will result in an increase in short term expenditure on drug budgets.

Lastly, the screening of family members does not have to be restricted by national boundaries in these days of rapid easy communication. About half of the families we screened had members living in other countries, and members of an extended family in Hong Kong and Singapore have been identified with the same mutation. This approach to the identification of subjects with genetic disease was championed by the late Professor Roger Williams, who initiated the MEDPED (make early diagnosis, prevent early deaths) organisation.⁵ Currently more than 28 countries have enrolled over 25 000 patients with familial hypercholesterolaemia in a major international collaboration funded by various international healthcare agencies and pharmaceutical companies to identify subjects with this serious but treatable genetic condition.