Treating heterozygous familial hypercholesterolemia almost always requires an intensive regimen of medications, lifestyle changes, diet and exercise to keep the symptoms under control and prevent or delay the onset of heart disease. When an individual is diagnosed with this relatively rare disorder (it occurs in about one in five hundred individuals worldwide), doctors will often have other family members tested and evaluated since it is an inherited genetic disorder. If this disease is suspected by a general practitioner, he or she will usually refer the patient to a cardiologist or a specialist in cholesterol problems, sometimes called a lipids specialist, in order to confirm the diagnosis and determine the best treatment options.
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 FH is so often misdiagnosed or missed entirely until heart disease has set in, often leading to complications such as artherosclerosis, heart attack or stroke. Lipids specialists have had additional training in diagnosing and treating metabolic disorders related to cholesterol imbalances, including heterozygous familial hypercholesterolemia. Because the options for treating FH are many and varied, lipids specialists spend a great deal of time keeping up with the latest protocols 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 Heterozygous Familial Hypercholesterolemia
It is estimated that up to 80% of individuals who have heterozygous familial hypercholesterolemia are never diagnosed, leading to heart disease, artherosclerosis, heart attacks and strokes that can be devastating and, in some cases, fatal. Some individuals are never properly diagnosed with FH 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, patients may be misdiagnosed with other disorders or illnesses because of similar symptoms. In these cases, treatment may be inappropriate or insufficient to curb eventual complications. If you or a loved one is diagnosed with Metabolic Syndrome, sometimes referred to as Syndrome X, and there is a family history of early heart disease, high cholesterol or heart attack or stroke, it is advisable to talk to a specialist, as many of the symptoms of Syndrome X mimic those of heterozygous familial hypercholesterolemia.
Who Should See A Lipids Specialist?
If you or a family member meet any of the following criteria, it is especially important for you and your family to see a lipids specialist or a cardiologist who is familiar with a variety of aggressive cholesterol treatment options:
• Any children diagnosed with familial hypercholesterolemia
• Anyone with homozygous FH
• Any individual who hasn't responded well to conventional therapies
• Any individual who can't tolerate the more common therapies
• Any person who 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 GP or family doctor to develop an appropriate, long-range treatment plan for heterozygous familial hypercholesterolemia. They can also help you and your family members learn more about the illness and how to improve your family's odds of delaying or preventing serious cardiac consequences.