Goldberg - Figure 3 - FH diagnostic criteria
As shown in this Figure, there are recognized FH diagnostic criteria. The best
characterized clinical diagnosed tools come from the US MEDPED (Make Early
Diagnosis to Prevent Early Deaths) program,[1] the Simon Broome Register Group[2]
from the United Kingdom, and the Dutch Lipid Clinic Network.[3] Genetic screening
and cascade screening are both done much more in Europe than are currently being done
in the United States. In the United States, screening for FH usually involves
- assessment of blood cholesterol concentrations
- inspection for physical signs of FH, such as xanthomas
- evaluation of family history.
“Cascade screening” is an important technique, however, for finding additional patients
with FH. In this procedure, once an affected proband or index individual (the first
identified individual of a family with FH) is recognized, his or her first-degree relatives
are systematically identified, contacted, and encouraged to undergo testing.
[4] Cascade
screening is the most cost-effective means of finding a previously undiagnosed FH
patient, particularly in children. The cost effectiveness of genetic testing will likely
improve continuously as the DNA technology advances, and the cost of treatment will no
doubt decrease as drug costs (especially for certain statins, which are the drugs of choice
for treating FH) decrease due to the expiration of patents.
Goldberg A.
J Clin Lipidol.
2011; 5(6).
Complete references for all slides
References
[1]US MedPed program. www.medped.org.medped.org
[2]Simon Broome Register Group. Risk of fatal coronary heart disease in familial
hypercholesterolaemia. BMJ 1991;303:893-896.
[3]Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial
hypercholesterolaemia: A long-term cohort study. BMJ 2008; 337: a2423.
[4]Newson, A. J., Humphries, S. E. Cascade testing in familial hypercholesterolaemia: how
should family members be contacted? Europ. J. Hum. Genet. 13: 401-408, 2005.
