There is no cure for homozygous familial hypercholesterolemia, the most severe form of FH. This extremely rare form of the disease occurs in less than one in a million people, and when an individual has it, they often go through a period of time where they try a number of different treatments before they find a combination of therapies that successfully minimizes their symptoms without unpleasant side effects.

Medications May Help

There are prescription medications that can be used either alone or in combination with other treatments and medications. Most treating physicians prefer to try oral medications as their first line of defense in cases of homozygous familial hypercholesterolemia. One powerful approach combines high level doses of statins with cholesterol absorption inhibitors. In some cases, this approach is successful, but because the prescription drugs are administered at high dosages, the treatment has to be closely watched by the prescribing doctor. Children with homozygous familial hypercholesterolemia have to monitored even more closely because the high doses can be hard on their systems. As with any form of FH, getting regular exercise and eating a low cholesterol diet can improve the results patients get from medications.  

If Medications Don’t Work, Invasive Therapies Might

Some people with homozygous familial hypercholesterolemia aren’t helped by medications. For them, other treatment options are available, although they are more drastic. One option for homozygous familial hypercholesterolemia treatment is apheresis, a treatment which filters cholesterol out of the bloodstream. It’s similar to kidney dialysis and has to be done on a regular basis to be effective. Apheresis is often an out-patient or clinic procedure that takes several hours each time. For those who don’t respond to medications or those who have to have apheresis treatments on a frequent basis, a liver transplant is sometimes recommended by homozygous familial hypercholesterolemia specialists. Finding a donor match is often the greatest hurdle for these patients. If a donor can’t be found or there is some other reason that a transplant isn’t a good option, a surgeon can do a partial ileal bypass, bypassing part of the small intestine so that the absorption of some nutrients is diminished. With either an ileal bypass or liver transplant, the results hinge partly on the individual’s willingness to continue watching their diet, exercising and taking certain medications after the surgery. A combination of all or some of these treatments is the best line of defense against the eventual heart disease that patients with homozygous familial hypercholesterolemia inevitably develop.  

Lomitapide Treatment For Homozygous Familial Hypercholesterolemia

In December of 2012, the FDA approved a new medication called Lomitapide for treating individuals with homozygous familial hypercholesterolemia in the event that other therapies or treatments have failed to keep cholesterol levels under control. This medication will have to be closely monitored in order to prevent liver toxicity, but it provides hope for adults with the most severe form of FH. At this time, Lomitapide isn’t recommended for treating children, but continuing clinical trials are underway to further gauge the effectiveness of the medication for patients of all ages.  

The Importance Of A Combined Approach

Individuals with homozygous familial hypercholesterolemia can have cholesterol levels that are so high they can’t be accurately measured. Obviously, this can lead to serious and sometimes deadly heart disease. Individuals shouldn’t give up after trying only a few treatment protocols. It may take a number of trial and error approaches before their doctors discover the most effective combination of treatments and medications. Support groups and non-profits like the Family Heart Foundation can help individuals with homozygous familial hypercholesterolemia register for clinical trials, find FH specialists in their area and give them support through a network of other individuals who have homozygous familial hypercholesterolemia. Sometimes discovering they aren’t alone is all the impetus individuals with FH need to get on the road to better health.  

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