Familial hypercholesterolemia can be genetically inherited from either parent and is an autosomal dominant genetic disorder. The gene mutation is located on chromosome 19 and gives any parent with the disorder a 50% chance of passing it on to one or more of his or her children. If both parents have it, their children will definitely inherit the disorder to varying degrees. Every year, we learn more about this disorder, which occurs worldwide in approximately one in every five hundred individuals. It is estimated, however, that as much as 80% of people with familial hypercholesterolemia go undiagnosed and untreated. But if researchers are learning so much about this familial disorder that can lead to cardiac disease and heart attack, why is it missed so often in the United States and other countries?
Cholesterol Testing Limited To At-Risk Adults
Because children and young adults rarely have high cholesterol levels, testing for the build-up of fatty deposits in the bloodstream and abnormally elevated cholesterol levels aren't usually done unless there are other, physical symptoms that lead doctors to request laboratory tests. Unfortunately, in some cases the long-term effects of the disease can cause a heart attack or cardiac episode, sometimes ending in death, before the individual is diagnosed with the disorder. It isn't effective or necessary to test children at a young age unless they meet other criteria that could indicate a cardiac condition or a predisposition toward heart attacks, including a family history of early cardiac abnormalities.
Families Don't Connect Heart Attacks To Familial Hypercholesterolemia
Many individuals today have experienced the loss of a loved one to an early heart attack or coronary artery disease and its complications. Most of these people don't, however, connect heart attacks in adults with the possibility that there could be an inherited disorder that manifests itself in any significant way in their children. They assume that they don't have to start worrying until they are in their 30s or 40s at the earliest. You may have heard someone say they are "destined to have a heart attack, just like my Dad," yet these same individuals don't understand that the foundation for such a cardiac event may have roots in their childhood and that these childhood conditions can be improved in order to minimize risk.
Increased Awareness Means Earlier Diagnosis
Fortunately, more people are being diagnosed earlier in life than ever before, largely due to an increased awareness of the disease. More physicians are asking the right questions and taking the time to track genetic links between their patients and the early cardiac problems of their patients' parents and grandparents. They are also more aware of the early symptoms, which may seem innocuous on the surface but are often the earliest indications of a problem. When familial hypercholesterolemia is suspected, genetic testing is often ordered, which focuses on mutations in the nineteenth chromosome. Once a diagnosis is positive, other family members can be tested and treated as early as age two.
Become Part Of The 20%
If you want to make sure you aren't one of the 80% of undiagnosed cases of familial hypercholesterolemia, learn what the warning signs are and be vigilant about bringing them to the attention of your regular physician so that he or she can be proactive in a treatment approach. Some warning signs include:
• A family history of heart disease, particularly if men in their 40s or women in their 50s have had cardiac incidences in the past.
• Watch for warning signs in family members of all ages. Early symptoms can include fatty deposits under the skin, particularly around the eyes. These are fatty deposits called xanthelasmata.
• Swollen tendons around the heel or on the backs of the hands can result in a bloated or swollen appearance. These puffy areas are referred to as xanthoma.
• A narrow, white ring at the edge of the pupil or iris of the eye, called arcus cornealis, is often seen in younger individuals who have familial hypercholesterolemia.
• Taking drugs to lower your cholesterol, watching your weight and exercising without any noticeable change in your blood work.
If you or someone you love has any of these early warning signs, talk to your doctor about having the rest of your family checked and the possibility of genetic testing so that proper treatment can be administered right away so that you and your children can avoid the fate of many undiagnosed patients who later succumbed to a heart attack or other cardiac problems.