Type of publication:
R. Cramb, H. Soran, *N. Capps, A. Rees, K. Ray, W. Madira, J. Deanfield, G. Thompson
Atherosclerosis, August 2014, vol./is. 235/2(e252-e253), 0021-9150 (August 2014)
Objectives: To provide a consensus position on the potential use of new therapies in the management of homozygous familial hypercholesterolaemia (HoFH) based on a review of the current standards of care, unmet medical need and new clinical evidence. The term HoFH is used to include compound heterozygous familial hypercholesterolamia as defined in the National Institute for Clincal Excellence guidelines. Methods: Participants in this discussion included clinicians managing HoFH in specialist centres, clinicians from lipid clinics and cardiologists with an interest in lipid disorders. Results: HoFH is a rare inherited disorders of cholesterol metabolism with a historical reported prevalence of 1/1,000,000. A survey in the United Kingdom (UK) identified 43 patients with a diagnosis of HoFH who receive care in one of 8 UK specialist centres. Conventional lipid lowering agents have a limited variable effect on low density lipoprotein cholesterol (LDLC) levels in HoFH. The current standard of care is by the use of lipoprotein apheresis that provides a temporary reduction in LDL-C with repeat apheresis at weekly or fortnightly intervals. Some of these patients are unable to tolerate regular apheresis, a high proportion may not achieve the European Athereosclerosis Society LDL-C targets for apheresis and there is uncertainty whether regular apheresis will prevent progression of disease. With the advent of new therapeutic approaches, the first of these being a microsomal transfer protein (MTP) inhibitor, UK clinicians have considered adopting a potentital management pathway to enhance care of patients with HoFH. Conclusion: HoFH are rare but life-threatening conditions, that require specialist therapeutic options. We describe a management pathway for patients with HoFH that considers current therapeutic options and directs the indications for new treatments to ensure maximum clinical benefit.