Population screening children for Familial Hypercholesterolaemia: is - PowerPoint PPT Presentation

Population screening children for Familial Hypercholesterolaemia: is it acceptable? Dr. Andrew Martin General Paediatrician, PMH Alistair Vickery, Jacquie Garton-Smith, Andrew Kirke, Gerald Watts, Karla Lister, Caron Molster, Faye Bowman

Familial Hypercholesterolaemia  Common (1:300), potentially lethal, but treatable  > 80% of those affected unaware  LDL-cholesterol 2 x normal from birth  Untreated 50% men & 20% women MI < 50 yrs  Autosomal dominant inheritance  Cascade screening

Diagnosis of FH in adults  Needs to be considered!  Scores based on family history, LDL-C level, clinical signs  Dutch Lipid Clinic Network Criteria (www.athero.org.au/FH/calculator)  Simon Broome Criteria

Clinical Manifestations of FH Gillett MJ and Burnett JR. Intern Med J 2005

Diagnosis of FH in children  More difficult!  Usually follows cascade screening after diagnosis of parent  Parent definite FH (if mutation known then test)  LDL-C < 75 th percentile (2.8mmol/L) - unlikely FH  LDL-C > 95 th percentile (3.5mmol/L) – probable FH  LDL-C > 5mmol/L definite FH

Management of children with FH  When to test children who have a parent with FH?  Around 5-8 years? Decide with parents  When to start treatment in children?  Generally 8-10 years  Clinical judgment: LDL-C, family history and parental views  Are current drugs safe in children?  Statins have same low level of bad side effects as adults  Good short term safety (growth, puberty)  Long term safety confirmed up to 10 years

FH in children: the current situation  Approximately 8,000 West Australians affected  1,600 children < 16 years with FH in WA  After 7 yrs FHWA only 50 children identified (< 5%)  Additional 100 children born every year with FH in WA  Need a better way to detect children with FH!

Population screening for FH

WHO principles for screening 1968 Wilson & Jungner ∗ The condition should be an important health problem. ∗ There should be a treatment for the condition. ∗ Facilities for diagnosis and treatment should be available. ∗ There should be a latent stage of the disease. ∗ There should be a test or examination for the condition. ∗ The test should be acceptable to the population. ∗ The natural history of disease adequately understood. ∗ There should be an agreed policy on whom to treat. ∗ The total cost of finding a case economically balanced in relation to medical expenditure. ∗ Case-finding continuous process, not "once and for all" project.

Population screening for FH  LDL-cholesterol at time of an immunisation  Pre-school booster (4yrs) or HPV vaccine (12yrs)  LDL > 4.5mmol/L probable FH  Reverse cascade screen through family  Appears feasible, but is it acceptable?  Many other conditions amenable to screening

Aims  Acceptability of screening children for FH by general population, GP’s, practice and immunisation nurses  Preference of general population, GP’s, practice and immunisation nurses to screen children at 4yrs or 12 yrs

Next steps  If population screening acceptable undertake pilot study to confirm feasibility

Acknowledgements Professor Alistair Vickery, Dr Jacquie Garton-Smith, Dr Andrew Kirke Professor Gerald Watts Karla Lister, Caron Molster, Faye Bowman Princess Margaret Foundation Grant

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