Background: Familial hypercholesterolaemia is an inherited disorder characterised by a raised blood cholesterol, the presence of xanthomatosis and premature ischaemic heart disease. The aim of treatment is the reduction of blood LDL cholesterol concentrations in order to reduce the risk of ischaemic heart disease. Current treatment is based on a cholesterol lowering diet alone or in combination with drug therapy. Many of the drugs found to be effective in treating adults with this disease are not licensed for use in children, therefore diet is the main treatment of children with familial hypercholesterolaemia. In addition to the cholesterol-lowering diet, several other dietary interventions have been suggested and consensus has yet to be reached on the most appropriate dietary treatment for children and adults with familial hypercholesterolaemia.
Objectives: To examine the evidence that in children and adults with familial hypercholesterolaemia, a cholesterol lowering diet is more effective at lowering cholesterol and reducing incidence of ischaemic heart disease than no intervention or than other dietary interventions.
Search strategy: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Trials Register, a specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. Additional studies were identified from handsearching the Journal of Inherited Metabolic Disease (from inception, 1978 to 2000) and from the reference lists of identified studies.
Selection criteria: Randomised controlled trials (RCTs), both published and unpublished, where a cholesterol lowering diet in children and adults with familial hypercholesterolaemia has been compared to other forms of dietary treatment or to no dietary intervention. Trials which include patients with familial hypercholesterolaemia alongside patients with non-familial hypercholesterolaemia were only included if the group of familial patients was well defined and the results for these patients were available.
Data collection and analysis: Two reviewers independently assessed the trial eligibility and methodological quality and one reviewer extracted the data, with independent verification of data extraction by a colleague.
Main results: Only short term outcomes could be assessed in this review due to the length of the five eligible studies. Compliance to treatment, quality of life, mortality and evidence of ischaemic or atheromatous disease were not assessed in the studies identified. No differences were found between the cholesterol-lowering diet and all other diets for all of the short term outcomes assessed.
Reviewer's conclusions: No conclusions can be made about the effectiveness of the cholesterol-lowering diet, or any of the other dietary interventions suggested for familial hypercholesterolaemia, due to the lack of adequate data. A large, parallel, randomised controlled trial is needed to investigate the effectiveness of the cholesterol-lowering diet and other dietary interventions for FH. It is also possible that data from trials including subjects with both familial and non-familial hypercholesterolaemia could alter the results of future updates of this review and until further evidence is available current dietary treatment of FH should continue to be observed and monitored with care.