Franke, Joseph G.

Lansberg, Peter J.

PubMed

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Journal of the Saudi Heart Association (2009) 21, 259– 260King Saud University
Journal of the Saudi Heart Association
www.ksu.edu.sa
www.sha.org.sa
www.sciencedirect.comLETTER TO THE EDITORDutch national screening and disease management program
for Familial Hypercholesterolemia (FH) – A model for
Saudi Arabia?Genetic Screening for and Disease Management of FH is an
underserved area in need of more attention in the Kingdom
and Gulf Region. A well organized, comprehensive disease
management program initiated early in the disease process
can substantially improve outcomes. Such a program is also
essential in secondary prevention for FH patients who require
surgical intervention.
In the Netherlands a cascade genetic screening program to
trace family members with Familial Hypercholesterolemia has
been successfully implemented by the StOEH (Stichting Opsp-
oring Erfelijke Hypercholesterolemie) since 1994. Over 45,000
Dutch FH family members have been tested and approx.
18,000 have been diagnosed using DNA diagnostics. The strat-
egy of using cascade family screening and DNA analysis as a
diagnostic tool is very cost effective as it minimizes expensive
hospital visits. Patients contacted appreciated this direct ap-
proach which was reﬂected by a >90% participation rate
and a sharp increase in the number of patients being treated
with cholesterol lowering drugs from 39% at the screening visit
to 93% after a one year evaluation. A recent 10 year follow up
of diagnosed FH patients showed a dramatic improvement of
their survival that was comparable to age and sex matched
non-affected controls in the Rotterdam study.
Patients with conﬁrmed diagnosis are followed in focused
disease management program that addresses the correctable
lifestyle issues and provides optimal medical therapy. Those
that fail these measures or conﬁrmed homozygous FH patients
are considered for advanced therapeutic options like LDL-
apheresis. For Homozygous FH patients, except for combined
heart–liver transplant, this is the only available treatment to
prevent cardiovascular death in adolescence or early youth.1016-7315 ª 2009 King Saud University. All rights reserved. Peer-
review under responsibility of King Saud University.
doi:10.1016/j.jsha.2009.10.013
Production and hosting by ElsevierIn the Netherlands, with 16.5 million inhabitants, the
screening program has been successfully executed as a national
screening program for the last 6 years with a relatively small
staff of 12 FTE local genetic ﬁeld workers and 2.5 FTE cen-
trally located support staff.
The StOEH program is considered a successful strategy
that is now being replicated in the UK, and Norway, France,
Austria, Belgium. Taiwan has also shown interest to emulate
the Dutch approach as well.
Given that the majority of the complications of this disor-
der are premature cardiovascular events and the national scope
of the problem the Saudi Heart Association is the logical for-
um for such a program.
It is important to note that high tech and medical solutions
in the treatment of FH while important, should not be the ini-
tial focus. The starting point of a program should focus on
education of families regarding diet, exercise and other modi-
ﬁable lifestyle factors. Having a trained FH disease manage-
ment expert visit the family in their homes is very important
and allows national coverage. All interventions must be evalu-
ated to obtain clear evidence of safety, efﬁcacy and cost effec-
tiveness. Using a centralized data registry for cascade screening
of family members as well as monitoring diagnostic and ther-
apeutic interventions would improve efﬁcacy and quality of
individualized treatment. In the future this would enable in
depth analysis of the effectiveness of the program as well as
the management of individual cases.
Using a proven model for FH disease management that fol-
lows treats and refers patients allows for improved FH out-
comes and more rational utilization of tertiary care facilities
and resources. Such a program is achievable with national
collaboration. The expertise and experience gained from the
FH screening and disease management program could serve
as a model for other orphan diseases and larger disease
management initiatives for which good treatment options are
available.
Integrated disease management program should be a start-
ing point for treating patients with FH. Advanced options for
management should then be carefully planned on a regional
basis to avoid duplication of services and optimize return
260 J.G. Franke, P.J. Lansberg(improved outcomes) on human and capital investments. All
interventions must be monitored to improve and optimize out-
comes. Based on this model, regional funding would be allo-
cated to support services like apheresis in dedicated facilities
where expertise of the professions, engineers and others would
provide the critical mass staff needed to provide a quality ser-
vice. Such regional services would likely be much more cost
effective.
Given that the majority of the complications of this disor-
der are premature cardiovascular events and the national scope
of the problem the Saudi Heart Association is the logical for-
um to develop such a program.
1. Review of ﬁrst 5 years of screening for familial hypercho-
lesterolaemia in the Netherlands. Lancet 2001; 357: 165–68.
2. Cost-effectiveness analysis of the genetic screening program
for familial hypercholesterolemia in the Netherlands. Sem-
inars in Vascular Medicine 2004; 4: 97.
3. Efﬁcacy of statins in familial hypercholesterolaemia: a long
term cohort study. BMJ 2008; 337: a2423.
Joseph G. Franke
Cardiac Clinical and Research Information
Systems Coordinator,Cardiac Sciences,
King Abdulaziz Cardiac Center,
King Abdulaziz Medical City,
Riyadh,
Saudi Arabia.
Tel.: +966 12520088x16759 (ofﬁce);
mobile: +966 502315291.
E-mail addresses: frankej@ngha.med.sa, frankej@gmail.comPeter J. Lansberg
Coordinator Durrer Center for Cardiogenetic Research,
Dept. of Vascular Medicine,
Academic Medical Center – Amsterdam,
Meibergdreef 9, F4-159.2,
P.O. Box 22660,
1100 DD Amsterdam,
The Netherlands.
Tel.: +31 20 566 2239/6612, +31 654 347 391 (mobile);
fax: +31 20 566 9343
E-mail addresses: p.j.lansberg@amc.uva.nl,
lansberg@gmail.com
Available online 31 October 2009


Dutch national screening and disease management program for Familial Hypercholesterolemia (FH) – A model for Saudi Arabia? 

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Dutch national screening and disease management program for Familial Hypercholesterolemia (FH) – A model for Saudi Arabia?

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