Treatment Options For Homozygous Familial Hypercholesterolemia

homozygous familial hypercholesterolemia

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

Doctors usually treat Homozygous Familial Hypercholesterolemia using a combination of medications. 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, doctors need to monitor these drugs carefully, 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 include 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. Doctors combine either of these surgical options with diet, exercise and some medications in order to improve the ongoing odds of controlling the 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. It’s for patients suffering from Homozygous Familial Hypercholesterolemia who have not responded well to other therapies or are limited in their treatment options. Because of Lomitapide side effects of liver toxicity, doctors monitor the drug levels carefully. Questions still remain regarding its efficacy and safety for use in children. Clinical trials will continue in order to gain a greater understanding of its potential advantages.

Because Homozygous Familial Hypercholesterolemia is usually severe it’s critical to try a variety of treatment options. Consulting with a physician who is familiar with this disease and its various treatment options is extremely important. Also, there are support groups where you can register for clinical trials and learn more about the latest options in controlling cholesterol levels.

Lipids Specialists Keep Current On The Latest Treatment Options

One of the most important reasons to consult with a cardiologist or lipids specialist is because Homozygous Familial Hypercholesterolemia is so often misdiagnosed or missed entirely until heart disease has set in. This often leads to complications such as atherosclerosis, heart attack or stroke. Lipids specialists have had additional training in diagnosing and treating metabolic disorders related to cholesterol imbalances, including Homozygous Familial Hypercholesterolemia. Because the options for treating Homozygous Familial Hypercholesterolemia are many, it’s hard for lipids specialists to keep up with the latest protocols. They stay tuned by reading the appropriate medical literature, participating in research studies and becoming active members in various organizations dedicated to the understanding and treatment of lipid disorders.

Misdiagnosis Of Homozygous Familial Hypercholesterolemia

It is estimated that up to 80% of individuals who have Homozygous Familial Hypercholesterolemia are never diagnosed. This leads to heart disease, atherosclerosis, heart attacks and strokes that can be devastating and, in some cases, fatal. Some individuals are never properly diagnosed with Homozygous Familial Hypercholesterolemia even after the onset of heart disease simply because it is a relatively rare disorder that not all doctors are familiar with. In other instances, misdiagnosis is due to the similarity of the symptoms with other diseases. In these cases, treatment may be inappropriate or insufficient to curb eventual complications. If anyone has a Metabolic Syndrome, aka Syndrome X, it is advisable to talk to a specialist. Many of the symptoms of Syndrome X mimic those of Homozygous Familial Hypercholesterolemia.

Who Should See A Lipids Specialist?

It is important to see a lipids specialist or a cardiologist when:

  • children diagnosed with familial hypercholesterolemia
  • anyone with Homozygous Familial Hypercholesterolemia
  • any patient who hasn’t responded well to conventional therapies
  • patient can’t tolerate the more common therapies
  • a person is a candidate for more aggressive protocols such as apheresis or liver transplant
  • men and women with a family history of early coronary disease. (less than 45 years old at onset in men and less than 55 years old in women)

Lipids¬†specialists can work closely with your family doctor to develop a long-range treatment plan for Homozygous Familial Hypercholesterolemia. They can help with improving your family’s odds of delaying or preventing serious cardiac consequences.

Larry serves as senior editor at MedellaUp. He writes and speaks extensively about diabetes and chronic disease. He spends his free time hiking and biking with his girlfriend, and teaching his old dog new tricks.

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