Homozygous familial hypercholesterolemia is an extremely severe and rare form of hypercholesterolemia that strikes only about one in one million individuals. There may be less than one million people in the world who currently have this disease, but those who do usually have to try a variety of therapies to keep their cholesterol levels under control. If you have this rare condition, your body's LDL receptors may not function at all or function at a severely curtailed level. There are several available treatment options, and most individuals will have to try a combination for the best results.
Moderate Success With Some Medications
Treating Homozygous FH with medication or a combination of medications is usually the first option tried by doctors treating patients with this severe form of familial hypercholesterolemia. The most successful is usually a combination of cholesterol absorption inhibitors and very high doses of statin drugs. While this is successful in some adults and children, it should be noted that these drugs need to be carefully monitored, particularly when given to children who may not tolerate the high dosages as well as adults. To improve results, patients should also exercise regularly and stick to a low cholesterol diet.
Drastic Treatment Options When Medication Isn't Enough
Unfortunately, there are some individuals with homozygous familial hypercholesterolemia who don't respond well to medications either alone or in combination. In these severe cases, other treatments may be required, including apheresis, a process similar to kidney dialysis that filters cholesterol from the bloodstream. Liver transplants are also an option, particularly for patients who have to undergo apheresis on a frequent basis. Another surgical procedure is partial ileal bypass surgery, in which a portion of the small bowel is bypassed in order to decrease the absorption of certain nutrients. Either of these surgical options can also be combined with diet, exercise and some medications in order to improve the ongoing odds of controlling your cholesterol levels and preventing the onset of heart disease.
Recent Developments In Treatment Of Homozygous Familial Hypercholesterolemia
On December 24, 2012, the Food and Drug Administration (FDA) approved a new drug called Lomitapide for patients suffering from homozygous familial hypercholesterolemia who have not responded well to other therapies or are limited in their treatment options. Careful monitoring of patients will be needed, as there is the potential for liver toxicity over time. Questions still remain regarding its efficacy and safety for use in children and clinical trials will continue in order to gain a greater understanding of its potential advantages.
Because homozygous familial hypercholesterolemia is usually extremely severe, with cholesterol levels that can be off the charts, it's critical thata variety of treatment options are tried in order to find the combination that works best for you. Consulting with a physician who is familiar with this disease and its various treatment options is extremely important. There are also support groups and non-profit organizations where you can register for clinical trials and learn more about the latest options in controlling cholesterol levels.
The FH Foundation was founded to help families cope with heterozygous and homozygous familial hypercholesterolemia and the impact of FH on their lives. They are advocates of education, research and proactive treatment to improve the quality of life for FH families. For more information, visit the FH Foundation website.
