How is familial hypercholesterolemia treated?

Familial hypercholesterolemia (FH) can be treated, but requires lifelong follow-up, as well as dietary and lifestyle changes to lower low-density lipoprotein (LDL) cholesterol. It's important that a person is diagnosed at a young age because early changes in diet and eating habits can help reduce the impact of FH later in life and treatment is more effective when started early before cholesterol deposits in blood vessels become too advanced.

• Aggressive lipid lowering is important in order to achieve the target LDL cholesterol reduction of at least 50 percent.
• Patients are typically prescribed statins as an initial treatment to lower cholesterol levels.
• Homozygous FH may require more intense treatment, such as apheresis, a dialysis-like cleaning of the blood.

Familial hypercholesterolemia (FH) patients generally require multiple forms of treatment.  This is because i) their LDL levels are very high (much higher than other cholesterol abnormalities) and ii) because they are generally resistant to statin medications.  For severe LDL elevations one of the therapies is LDL apherhesis.   This therapy, resembling dialysis, eliminates the cholesterol-containing particle low-density lipoprotein (LDL) from the bloodstream.  Another new medication used in FH is one that lowers lipoprotein assembly and secretion from the liver.  Other medications include a compound that blocks atherogenic lipoprotein formation.  Finally, medications that effectively target the abnormalities that are created by the genetic changes that occur in FH will probably be available soon.  For less severe LDL elevations, such as in a patient who has heterozygous FH, statins and combinations of statins and other conventional LDL lowering agents are possible.  

Please read in other sections about FH - it is not as uncommon as people once thought and it requires clinical expertise in lipid management to treat.