What is Autosomal Dominant Genetic Disorder?

Genetic disorders are diseases caused by abnormalities in an individual’s genetic structure. Many of them are passed down from parent to child. There are many different types of genetic disorders–a genetic disorder may be caused by a mutation in a section of the gene, an absence or alteration in an entire chromosome, or a variety of individual mutations that are further influenced by genetic factors. In addition to the fact that the number of genes affected changes the disease, whether the trait involved is dominant or recessive also makes a difference in terms of risk factors and susceptibility, in particular, how easy it is to pass the genetic disorder down to your offspring.

Autosomal Dominant Genetic Disorder Definition

If a genetic disorder is autosomal dominant, that means that only one of your parents needs to have the genetic disorder in order for you to have it as well. Since the genetic trait is dominant, the abnormal gene will override the normal gene if it is passed down, as opposed to a recessive trait, which requires two genes. This works the same way as a genetic trait like eye color–brown eyes are a dominant gene so you can have them with just one brown eye gene, while blue eyes are recessive, requiring two genes. In the case of a genetic disorder, assuming that your parent has only one gene with the abnormality (it is possible to have two with many genetic disorders), you have a fifty percent chance of receiving the abnormal gene and thus the autosomal dominant disorder as well.

Familial Hypercholesterolemia is an Autosomal Dominant Genetic Disorder

The autosomal dominant genetic disorder that is of particular importance to us at the Family Heart Foundation is familial hypercholesterolemia, a genetic disease that affects cholesterol in the blood. Individuals who suffer from FH are at a high risk for heart disease and heart failure at early ages. If you have FH, it’s essential to pursue the diet, lifestyle, and medication changes that are necessary preventative measures to give FH patients a higher quality of life.

Homozygous Familial Hypercholesterolemia

While only one of your parents needs to have the FH in order for you to get it, having two parents with FH puts you at risk for an even more severe form of the disease. If both chromosomes you inherit are affected, the disease takes a much more serious form that can have even more risky health consequences.

the Family Heart Foundation is dedicated to raising awareness about this significant genetic disorder. One in every three to five hundred people has FH, and nearly ninety percent of those people are unaware that they have it. Since preventative lifestyle management is an essential part of reducing the risk for life-threatening heart diseases, FH education is the most important service we can provide to help people consider their risk factors and determine if they might benefit from getting tested for FH. Browse our website for more information.

Leave a Reply