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Familial Adenomatous Polyposis P022

Document
Last amended 
15 February 2021
Current RMA Instruments
Reasonable Hypothesis SOP39 of 2013
Balance of Probabilities SOP 40 of 2013
Changes from previous Instruments

SOP Bulletin 166

ICD Coding
  • ICD-9-CM Codes: 211.31
  • ICD-10-AM Codes: D12.6
Brief description

Familial adenomatous polyposis is an inherited autosomal dominant syndrome, characterised by the formation of numerous (typically > 100) colorectal adenomas.

Confirming the diagnosisIs

This diagnosis is based on the finding of a very large number of adenomatous polyps on colonoscopy or sigmoidoscopy, plus a positive gene study.

The relevant medical specialist is a gastroenterologist or colorectal surgeon.

Additional diagnoses covered by SOP
  • Familial polyposis coli
Conditions not covered by SOP
  • Malignant neoplasm of the colorectum*
  • Benign neoplasms of the colon or rectum - may be covered by the colorectal adenoma SOP or may be non-SOP
  • Neoplasms including polyps of the anal canal - non SOP

* another SOP applies

Clinical onset

The condition may be detected by screeening (genetic & colonoscopic) at an early age, based on a positive family history.  In others the condition may become clinically apparent, with development of gastrointestinal symptoms (bleeding, diarrhoea, abdominal pain, obstructive symptoms).  These symptoms may be from the polyps, or due to the development of colrectal cancer (for which there is a very, very high risk if the polyposis is untreated).  In such cases diagnosis is usually between ages 20 and 40.  There may be manifestations outside the colorectum that can also point to the diagnosis (e.g. polyps and other benign tumours at other sites).

Clinical worsening

The only SOP worsening factor is for inability to obtain appropriate clinical management.  Management comprises either annual screening colonoscopy with polyp excisions, or a colectomy (removal of colon), because of the inevitability of colorectal cancer and the unmanageably high number of polyps.  Elective colectomy is typically performed in the late teens or early 20s.