Everything You Need To Know About Familial Hypercholesterolemia Genetics If you or a loved one has been diagnosed with familial hypercholesterolemia, you've probably been told that it is a genetic disorder that can be passed down from one generation to the next. You may also have been told that any children you have run the risk of having the disease, but you may not really understand how it works or who is most likely to get it. This brief introduction should help you understand the disease better. The Basics Of Familial Hypercholesterolemia Genetics There are several genes that can affect your body's ability to process and eliminate bad (LDL) cholesterol from the body. If one of these genes is mutated, the body's ability to produce low-density lipoprotein receptors is compromised. As a result, your body can't effectively remove cholesterol from the blood stream. In another form of FH, a mutated gene may mean your body can't produce the receptors in sufficient quantity. The results are the same in either case - a dangerous build-up of cholesterol. In the most severe instances, familial hypercholesterolemia genetics result in a child inheriting both forms of the disorder, resulting in a rare combination of FH that is more severe and extremely difficult to treat. Why Familial Hypercholesterolemia Is So Prevalent Most inherited disorders are relatively rare compared to contagious diseases or illnesses that don't have a genetic component. FH, however, is one of the most common of genetic disorders. The reason for this is that it can be inherited when only one parent carries the specific gene for it. This makes it an autosomal dominant disorder. You only need to have that gene passed on to you from one parent to have it, and the odds are 50/50 that you will develop the condition. Because of this, it is estimated that one in every three hundred to five hundred individuals have it, although less than 25% of people with FH are successfully diagnosed. In very rare cases (less than one in a million births), both parents are carriers and a more severe form of the disease is passed on to all offspring. Why Some Ethnic Groups Are Affected More Than Others Certain ethnic groups have a higher incidence of FH than others, primarily because of the way genetics work. Because the gene doesn't have to be carried by both parents, it is easier for either the mother or the father to pass it on. In ethnic groups that tended to be small, isolated or insular in the past, the occurrence of familial hypercholesterolemia became more common because specific members of the group tended to intermarry repeatedly over generations, increasing the number of individuals with FH over several generations. Groups that fall into this category include Afrikaners, Lebanese, Ashkenazi Jews and French Canadians. If you have more questions about familial hypercholesterolemia genetics and how they may affect your family's health, visit any of the FH support organizations on the Internet or ask your doctor to refer you to a genetic counsellor or physician specializing in inherited diseases for more information. The FH Foundation is devoted to helping people understand and cope with FH. Because familial hypercholesterolemia genetics (http://www.thefhfoundation.org/learn/) can play a role in the disease, the FH Foundation provides information on the link between family heart disease and FH. To register for FH research studies, visit http://www.thefhfoundation.org.
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