Why doesn't everyone with familial hypercholesterolemia have fatty liver?

Most Do: Familial hypercholesterolemia is the most common genetic disorder involving choleterol levels . If a patient has an LDL cholesterol level above 200 he/she has familial hypercholesterolemia. It is transmitted in a way that each child has a 50/50 chance of inheriting this. On a microscopic level there is increased liver fat in all of these patients, it just may not show up on blood tests.

Cholesterol not fat: Cholesterol and fat are two different things. Fat is transported in the human body as triglycerides, and it's triglycerides that accumulate in the liver in fatty liver. Patients with familial hypercholesterolemia don't typically have problems with triglycerides, but just like everyone else they can have such problems (especially if they gain allot of weight).

Normal VLDL function: Fatty liver due to disorders of lipid metabolism occur because fat (primarily triglyceride) synthesized in the liver is unable to be exported in vldl particles. This is often present in familial combined hyperlipidemia (fch), Insulin resistance, and type ii diabetes mellitus. Familial hypercholesterolemia (fh), poor clearance of LDL but normal vldl metabolism, often does not produce a fatty liver.