Cascade testing for FH in the UK is feasible, acceptable and likely to be cost-effective if it is a routine aspect of clinical care. However, national implementation would require an integrated infrastructure, so that all individuals have access to testing, and specialist services for the management of young people.

Background: Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder which is relatively common, leads to high levels of LDL-cholesterol and if untreated to early coronary heart disease. An audit of current practice at National Health Service Trusts in England was undertaken to determine whether FH patients meet the diagnostic criteria for FH; are being offered appropriate advice and treatment; and to what extent their families are contacted and offered testing for the disorder. Methods: Medical records of known FH patients (over 18 years of age and diagnosed before 31 December 2003) were accessed to obtain information on diagnosis, treatment and family tracing. Results: The records of 733 FH patients were examined, 79% met the UK 'Simon Broome' register criteria for the diagnosis of definite or possible FH. Analyses showed that patients were usually offered appropriate advice and treatment, with 89% being on a statin. However, the audit indicated a high variability in family tracing between the sites, with significant differences in the frequency of inclusion of a family pedigree in the notes (range 1-71%, mean 35%); the general practitioner (GP) being advised that first-degree relatives should be tested (range 4-52%, mean 27%); and the proportion of relatives contacted and tested (range 6-50%, mean 32%). Conclusion: FH patients are well cared for in lipid clinics in England, are being given appropriate lifestyle advice and medication, but an increase in recording of LDL-cholesterol levels may lead to improvements in their management. Practice in family tracing appears to vary widely between clinics.

No method gave good agreement with the tandem MS results, and there were major differences in measured plasma creatinine concentrations (up to 30% difference) between the various methods. We suggest that efforts should be made to standardize plasma creatinine measurement across all laboratories to minimize these problems.

Dr Fogarty had full access to all of the data and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Alendronate is one of the best and most extensively studied bisphosphonates in the treatment of osteoporosis. This review considers in detail the major pivotal study, the fracture intervention trial (FIT), upon which the use of alendronate is based and which was a landmark study in terms of design, size and clinical impact. The role of alendronate has subsequently been underscored by a range of studies extending the clinical indications for its use and consolidating the effect on reducing both vertebral and non-vertebral fracture risk. Although the emphasis of these studies has predominantly been on the management of postmenopausal osteoporosis, data is also available in primary prevention, men, and glucocorticoids-induced osteoporosis. Direct comparison between the different drugs used to treat osteoporosis with fracture end points are needed for patients and doctors to make informed choices, but the size of such studies are prohibitive. Clinical trials using surrogate markers such as bone mineral density and biochemical markers of bone turnover have been performed which provide some helpful information but the limitations of this approach need to be recognized.