How is familial hypercholesterolemia primarily transmitted?

Familial hypercholesterolemia is primarily transmitted through autosomal dominant inheritance. This means that only one copy of the mutated gene inherited from an affected parent is sufficient to result in the condition. The specific gene often implicated is the LDLR gene, which plays a crucial role in cholesterol metabolism by regulating the levels of low-density lipoprotein (LDL) in the bloodstream.

In cases of autosomal dominant inheritance, individuals who inherit the mutation have a 50% chance of passing it on to their offspring. This pattern of inheritance explains why familial hypercholesterolemia can appear in successive generations of a family and why affected individuals frequently have close relatives with high cholesterol levels or early cardiovascular disease.

The other inheritance patterns, such as X-linked, autosomal recessive, and mitochondrial inheritance, do not apply to familial hypercholesterolemia, as they involve different mechanisms and patterns of transmission that would not account for the condition's familial clustering as seen in this genetic disorder. This makes autosomal dominant inheritance the correct and appropriate mode of transmission for familial hypercholesterolemia.