Everything You Need To Know About Familial Hypercholesterolemia
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
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.