Webster's New World Medical Dictionary

familial adenomatous polyposis
A genetic
disease characterized by the presence of numerous
precancerous polyps in the colon and rectum. The
polyps usually begin to form at puberty, and colon
cancer almost always develops later in life.
Abbreviated FAP. FAP is inherited as an autosomal
dominant trait. Most people who receive the gene
manifest the disease, although the expression of FAP
can vary markedly from person to person. The gene
that is mutated in FAP is the APC (adenomatous
polyposis coli) gene on chromosome 5. Surgery is
often necessary to remove the colon in order to pre-
vent the development of cancer. A milder type of
factor VIII
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familial adenomatous polyposis has been identified
that is inherited in an autosomal recessive manner.
This is referred to as autosomal recessive familial
adenomatous polyposis and is caused by mutations
in a different gene known as MUTYH. Also known as
familial polyposis, familial polyposis coli.
familial breast cancer
See 
breast cancer,
familial.
familial cancer
Cancer or a predisposition (ten-
dency) to it that runs in families.
familial hypercholesterolemia
The most com-
mon inherited type of hyperlipidemia (high lipid
levels in the blood). Familial hypercholesterolemia
is recognizable in childhood and is due to genetic
defects in the receptor (target) for low-density
lipoprotein (LDL). The most common autosomal
dominant form of hypercholesterolemia is caused
by mutation in the LDL receptor gene (LDLR) on
chromosome 19. There are also a number of other
less frequent forms of this disorder. Familial hyper-
cholesterolemia predisposes a person to premature
arteriosclerosis, including coronary artery disease,
and can lead to heart attacks at an unusually young
age. Treatment involves dietary modifications and
the use of cholesterol-lowering medications.