There are several approaches to treating patients with drug-resistant hypercholesterolemia; none of them are easy or pleasant. Of the available methods, the one that has undergone the most testing is apheresis.
ApheresisIn apheresis, cholesterol-laden blood is pumped out of a blood vessel, and then is processed in a way that removes the proteins (called lipoproteins) that contain LDL-cholesterol. Finally, the reduced-cholesterol blood is returned to the patient's circulation. (This procedure is somewhat similar to the hemodialysis that is used for patients with kidney failure.)
Apheresis acutely reduces LDL cholesterol levels by as much as 75%. However, because the liver in these patients is producing a lot of LDL cholesterol, the LDL levels come back up within a few days. So apheresis usually needs to be performed at least once a week, and sometimes twice a week.
Embarking on apheresis therapy, obviously, is a major commitment in time and inconvenience, and it is also extremely expensive. In addition, it can produce several fairly common side effects, including low blood pressure, anemia, and headache. Finally, just as in patients having hemodialysis, those having apheresis generally need to have a surgical procedure to create an arteriovenous fistula (surgically connecting an artery and vein just beneath the skin), which greatly simplifies the frequent access to the blood vessels necessitated by apheresis.
The effectiveness of apheresis in children with severe cholesterol disorders has been studied. Here is what UpToDate, an electronic reference for doctors and patients, has to say about the results of apheresis in children:
The safety and efficacy of long term LDL-apheresis was evaluated in a study of 11 children with severe genetic hypercholesterolemia (including children with homozygous FH) who were treated for 2 to 17 years. There were no cardiac deaths, non-fatal myocardial infarctions, or coronary revascularization procedures. Regression of established coronary artery lesions, as well as prevention of the development of new aortic and coronary lesions, was demonstrated.In other words, despite all the drawbacks of apheresis, at least one study appears to show that this form of treatment - in children, at least - not only reduces LDL cholesterol levels, but also appears to substantially reduce the risk of developing premature cardiovascular disease. So despite all its drawbacks, apheresis is something that ought to be considered in children with severe forms of hypercholesterolemia that do not respond to statins.
The Long TermFortunately, it now appears that apheresis may not be a lifelong commitment. Thanks to recent developments in research on human genetics, several very promising new treatments are being developed, aimed at the specific genetic disorders that produce FH. The new drugs under development have a very good chance of effectively reducing LDL cholesterol down to target levels. It is probably correct to view apheresis in children with FH as a temporizing measure - as a way to keep the blood vessels relatively "clean" while we are waiting for more definitive, and far easier, medical therapy.
Want to learn more? See UpToDate's topic, "Familial Hypercholesterolemia" for additional in-depth medical information.
Rosenson RS, de Ferranti SD, Durrington P. Treatment of drug-resistant hypercholesterolemia. UpToDate. Accessed, July 2012.