Abstract

Introduction Familial hypercholesterolaemia (FH) is associated with highly elevated LDL-cholesterol and causes early onset cardiovascular disease. Its autosomal dominant inheritance allows family cascade screening to be performed once an index case has been identified. However, the vast majority of individuals with FH in the United Kingdom have not been identified, and there is no national screening programme. We aimed to assess the utility of combined computer and notes-based searches in identifying index cases of FH in primary care, and to uncover the degree of case overlap with secondary care.

Methods Four computer searches were conducted in one South London practice with a registered population of 12 100 patients. Selected notes were reviewed by a general practitioner and consultant lipidologist to give a Dutch score for the probability of FH.

Results 402/12100 (3%) patients had a Dutch score high enough to require a notes review. Twelve cases of definite FH were found of whom two were unknown to the practice. Eight probable cases were found, seven of whom were previously unknown. 2/12 (16%) of the definite cases and 4/8(50%) of the probable cases were unknown to a secondary care lipid clinic. 216/402 (54%) patients scored as possible cases. After specialist review 47/216 (21.7%) patients would merit recalling for a detailed family history and xanthoma examination.

Conclusions There are both diagnosed and undiagnosed cases of FH in primary care not known to secondary care. There is significant potential to identify new cases of FH in primary care who could act as new index cases for a family screening programme.