Genetic mutations can effect the production or function of lipoproteins, which transport and store cholesterol. This mutation is called FH, which occurs when there is a mutation in one of your chromosomes for the LDL receptor , which plays an important role in balancing cholesterol levels. Homozygous FH occurs when both parents pass down the gene to the offspring and it leads to very high levels of LDL (low density lipoprotein), which leads to increased cholesterol levels in the blood, blocked arteries, and cholesterol skin deposits. This also occurs early in life, even during childhood, and it is difficult to treat. Treatment can include filtering to blood to remove the LDL particles, known as LDL apheresis. Heterozygous FH is when only one parent passes down the mutated gene and it still leads to elevated LDL levels, high cholesterol, and cholesterol deposits under their skin or on their Achille's tendon, but it does not occur early in life like Homozygous FH. Heterozygous FH is usually detected after the patient's first coronary event such as a heart attack, but it is easier to treat than Homozygous FH and treatment usually consists of oral medication. If one parent is heterozygous and the other parent does not have the mutation at all, all of their children will have a 50% chance of getting the mutation. Meanwhile if One parent is homozygous and the other does not have the mutation, all of their children will have a 100% chance of getting the mutation. Therefore, this mutation is a dominant trait because you only need one allele to express it.
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