Treatment options for heterozygous familial hypercholesterolemia usually involve a variety of treatments as well as vigilant changes in lifestyle, diet and exercise designed to minimize symptoms and delay the onset of coronary artery disease and other heart problems. Because only about one in five hundred people has FH, doctors will almost always test other family members for FH and suggest genetic testing to determine which family members carry the gene for the disorder. This can result in earlier treatment of other family members who haven’t been diagnosed and a better understanding of the disease. In many cases, doctors will refer individuals and families with heterozygous familial hypercholesterolemia to a cardiologist or a lipids specialist to confirm an FH diagnosis and develop a customized treatment plan for each individual.

Latest Treatment Options Available Through Specialists

  Because heterozygous familial hypercholesterolemia is such a rare and severe disorder, it’s critical that patients have the opportunity to receive the latest treatments. A cardiologist or lipids specialist can be a life saver. Lipids specialists focus on treatment of metabolic disorders, including cholesterol imbalances and FH. These doctors have received additional training and take the time to keep up with the latest research developments and treatment advances for heterozygous familial hypercholesterolemia, using their knowledge to prescribe the best possible and most advanced treatment protocols available.  

The Problem Of Misdiagnosis

  the Family Heart Foundation knows that in the United States, only about 20% of people who actually have heterozygous familial hypercholesterolemia are diagnosed properly. Because it often isn’t caught early on, patients with FH often develop serious complications such as artherosclerosis, strokes or heart attacks that can be fatal or severely debilitating. Many people who have heterozygous familial hypercholesterolemia are never diagnosed because their doctors aren’t familiar with it and aren’t aware of their family history of heart disease. In some cases, patients are unsuccessfully treated for heart disease because the underlying FH isn’t being treated. In some cases, patients with FH are misdiagnosed with Metabolic Syndrome or Syndrome X. If these patients also have a history of high cholesterol or early onset heart attacks, they should be referred to a cardiologist or lipids specialist who is familiar with heterozygous familial hypercholesterolemia for further testing.

Do Patients With Heterozygous Familial Hypercholesterolemia Need Specialists?

  It’s not uncommon for patients who have worked with a family doctor or general practitioner for years to resist seeing a specialist when they are diagnosed with heterozygous familial hypercholesterolemia. It’s natural to want to stick with a doctor they are comfortable with, but specialists have additional training, a deeper understanding of the disease and years of experience working specifically with FH patients and their families. They are more familiar with aggressive treatment options and can give guidance and support to families who have heterozygous familial hypercholesterolemia. Seeing a specialist doesn’t mean you have to give up your family physician. Cardiologists and lipids specialists are happy to collaborate with their patients’ doctors in developing a long-range course of action that includes diet and exercise as well as lifestyle changes. By seeing these specialists in heterozygous familial hypercholesterolemia, you can ensure that everyone in your family knows and understands the risks of FH and how to treat symptoms effectively.

the Family Heart Foundation provides additional resources for information and support.