Familial hypercholesterolemia in South Africa: To screen or not to screen? A national perspective

Introduction: A review of available data shows familial hypercholesterolemia (FH) to be very common in South Africa: about 62 000 existing cases and about 1100 new cases added to this pool each year. For the purpose of a national strategy for the prevention of the sequelae of FH it will be necessary to annually identify at least the latter number of FH cases, in order to break even. The question to be addressed is how this national objective can best be achieved given the genetic and epidemiological characteristics of this condition in South Africa, and what progress toward meeting the defined target has already been made by using available facilities. The discussion of this topic may have a bearing on the implementation of similar national programs in other countries. Evaluation of methods: Two possible strategies, i.e. mass screening of an age-cohort (either newborns, children or young adults, etc) and 'genealogical screening' are found neither to be practical nor sufficiently effective for achieving the desired goal. The alternative strategy of family follow-up on patients preselected on clinical indications (case-finding) is found to be most suitable for current local conditions. Results: Data derived from lipid clinics at various academic/provincial hospitals and from Genetic Services (1982-92) show that these see about 600 new patients annually (representing about 23% of their overall patient load), of which about 60% are diagnosed as Fredrickson type II A and about 90% of these are expected to be FH patients. This means that the existing service facilities meet about 30-40% of the estimated goal (of about 1,100 new FH patients to be identified annually). Discussion: It is suggested that by increasing the patient 'turn-over' and establishing additional lipid clinics at other centers, the set objective can well be met. The questions of prenatal diagnosis for FH homozygotes and a possible national FH registry are also relevant in conjunction with the proposed screening strategy, and are addressed. The evaluation and considerations as outlined may have relevance also for other countries and genetic screening programs.