familial polyposis
Meaning of familial polyposis: Familial polyposis is an inherited disorder causing hundreds of colorectal polyps that carry a near certain lifetime risk of colorectal cancer.
Definition of familial polyposis
Familial polyposis, more fully called familial adenomatous polyposis, is an inherited disorder caused by a mutation in a specific gene that normally helps regulate cell growth in the lining of the colon and rectum. The mutation leads to the development of numerous polyps, often numbering in the hundreds, beginning at a relatively young age.
Because these polyps form in such large numbers over the affected person's lifetime, the risk that at least one will eventually develop into colorectal cancer is very high if the polyps are not identified and addressed. For this reason, people with familial polyposis are typically monitored closely from an early age.
Familial polyposis is inherited in an autosomal dominant pattern, meaning a child of an affected parent has a substantial chance of inheriting the same gene mutation, and genetic testing can identify the responsible mutation in relatives of someone already diagnosed with the condition.
Also known as
Used in a sentence
Genetic testing confirmed familial polyposis after colonoscopy revealed hundreds of colorectal polyps.
Good to know
Familial polyposis carries a very high lifetime risk that at least one of its numerous colorectal polyps will become cancerous if left unaddressed, which distinguishes its management from that of an isolated, sporadic polyp.
Word origin
Where “familial polyposis” comes from
Formed from Greek polypous, meaning many-footed, and -osis, meaning a condition, describing the numerous polyps characteristic of this inherited disorder.