Genetic Disorder: Definition and Information

The phrase “genetic disorder” can sound highly frightening to many people. While that fear isn’t always unjustified, understanding exactly what it means makes it possible to approach the topic with a rational attitude focused on finding treatments and learning to manage the symptoms. Especially in the case of familial hypercholesterolemia, understanding the difference between inherited high cholesterol (as in the case of FH) and “garden variety” high cholesterol is crucial to effective management of this condition.

A basic definition of a genetic disorder is a disease that is caused by abnormalities in a person’s DNA. There are a variety of different levels of genetic disorders. Some genetic disorders are mutations of just a single gene that alter the protein production of that gene. Some single cell genetic disorders that you may be familiar with include cystic fibrosis, Huntington’s disease, and sickle cell disease. Chromosomal abnormalities occur when entire segments of DNA are mutated or missing. Down syndrome, for example, is a chromosomal abnormality. The final level of genetic disorder definition is the multifactorial disorder, where multiple genes suffer mutations. These types of genetic disorders may also be affected by environmental factors. Hypothyroidism, Alzheimer’s disease, and several types of cancer fall into this category.

Familial hypercholesterolemia is a condition caused by a genetic mutation that can be passed down from parent to child. It disrupts cholesterol processing in the blood and can lead to early and devastating types of heart disease. There are two forms of FH: Heteroyzgous FH and Homozygous FH. If you have one parent with FH, you have a fifty percent chance of having the mutation passed down to you. FH passed down from a single parent is called Heterozygous FH, and it occurs in one out of every 300-500 people worldwide.

If you inherit FH from both parents, it is a far more serious disease that can have even more severe consequences. This form, however, is fortunately far more rare. Just one in one million people have homozygous FH. Whichever form of FH a person has, it is highly important to manage it with lifestyle and diet changes, as well as medication, in order to prevent significant early heart failure. It’s important to understand the genetic disorder definition of FH and understand what risk factors it might signal that you have.

the Family Heart Foundation exists to educate people about familial hypercholesterolemia in order to raise awareness and help people seek early treatment that can save their lives. We are a patient focused orientation, dedicated to making sure that people understand their risk factors for FH as well as can be done to make a difference that will help FH patients lead long and productive lives. Please browse our website to learn even more about this important genetic disorder and find out how you can get involved.