Patients with undiagnosed familial hypercholesterolaemia can be identified by searching the practice database and reviewing the notes.

The study was carried out in a London practice with more than 12,000 patients. Four computer searches were performed to identify patients with a Read code for ischaemic heart disease or a lipid disorder, repeat statin prescriptions or a lipid profile.

An established scoring system, using the Defesche criteria (the Dutch score), was used to estimate the probability of familial hypercholesterolaemia (see table 1, attached). A GP and consultant lipidologist then reviewed the notes of the patients identified by these searches, who were classified as definite familial hypercholesterolaemia (Dutch score >8), probable (6-8), possible (3-5) or unlikely (<3).

A total of 402 patients had a Dutch score high enough to require a review of the notes. The study identified 12 definite cases, of which two were unknown to the practice. Eight probable cases were also found, of which seven were unknown. Two of the definite cases and four of the probable cases were not under the care of a specialist lipid clinic.

The study identified 216 patients as possible cases. After specialist review, 47 (22%) of these patients were identified as requiring recall for a detailed family history and clinical examination for tendon xanthomata.

This paper focuses on a small but significant group of patients whose CV risk is already great enough to exclude them from the standard risk assessment process. Familial hypercholesterolaemia is an autosomal dominant condition resulting in significantly elevated LDL cholesterol and can cause premature CVD. Despite the usefulness of family screening in this condition, there is no national screening programme and patients often go undetected.

Early treatment significantly improves the outcome in these patients, and if left untreated 50% of affected men will have clinical manifestations of coronary disease by the age of 50. This study shows that it is possible to identify familial hypercholesterolaemia using a primary care database and to ensure that an appropriate specialist opinion is offered to patients and their families.