Goldberg - Figure 3 - FH diagnostic criteria Text

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).