Telephone: 0418 932 798
Email: vl.foundation@bigpond.com

ABN 26 201 855 9000
Incorporation A1006 501W
DGR 900 452 141

Medical Name:  Familial Hypercholestreolaemia

Prof Gerald Watts (GW), head of the Lipid Diseases Clinic at Royal Perth Hospital proposes to research in the SW how best to discover individuals with "Inherited Cholesterol".    They inherit exceptionally high blood cholesterol which blocks arteries from childhood, with premature death from stroke or heart attack.

 The condition is now treatable and we are faced with up to 300 people in the SW who unwittingly are at risk of early death from heart attack.  (As young as 35) On treatment, their life expectancy returns to normal. At first sight this looks to be a simple family care issue for General Practitioners.  However because the condition was untreatable, there is now a backlog of family members to be checked, many of whom will be outside the practice of any one GP. 

Moreover it is not clear which are the most efficient methods for discovering new families.  Finding the first case (Index case) in a family is the main challenge:  half of the blood relatives will also have the condition but finding them is straightforward.  

What is less clear is how acceptable this diagnosis and treatment will be to people who feel well and regarded themselves as normal. An important arm of the research will establish success rates. Low take-up would imply the need to prime the population with information and establish prior understanding of the value of preventative treatment.

 The first phase of research will focus on Index case detection.  This can be through patient records from hospitals and pathology laboratories, patient GP records or through short voluntary questionnaire and blood cholesterol test as part of industrial medical examination services.  The process would be confidential with positive cases referred to their own doctor. Dr S Hinton will lead this phase.

The second phase will be undertaken at the UWA /ECU Rural medical School in Bunbury under Professor Campbell Murdoch. This will research all family members of the index cases, regardless of where they live.  This will relieve busy doctors of the onerous task of tracing and contacting multiple relatives across the country and again develop techniques applicable across Australia.

 The goals are:

To develop and demonstrate the most efficient methods for index case detection.

To reach undiagnosed people in the SW and provide the preventative treatment now available

To assess acceptability and long-term efficacy of the treatment for people who do not regards themselves as ill

To publish the final results for the benefit of the whole of Australia, where this hidden risk remains almost unaddressed, with only 10% of estimated cases on treatment.

Benefits to industry include

·             protection of their employees by avoiding sudden premature heart attack

·             protect industry’s investment in those employees

·              direct benefit to employees families where an index case is present

·             direct contribution to community health research

·             Australia wide relevance, addressing a current need.

Research Plans:     Once research plans and budgets have been finalised, contracts will be signed and fund raising will commence.  This research will not begin before 2009, apart from trial of questionnaires with industry employees.