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Familial Adenomatous Polyposis P022

Document
Last amended 
30 June 2015

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

Familial adenomatous polyposis means an inherited autosomal dominant syndrome caused by germ-line mutation of the adenomatous polyposis coli gene, characterised by the formation of more than 100 colorectal adenomas.

Is specific diagnostic evidence required to apply the SOP? – Yes.

This diagnosis is based on the finding of a very large number of adenomatous polyps (> 100), found usually on colonoscopy or sigmoidoscopy, plus a positive gene study. The relevant medical specialist is normally a gastroenterologist.

Are there sub-factors that require specific information? – No.

There are no specific aetiological factors.

Additional diagnoses covered by SOP
  • Familial polyposis coli
Conditions not covered by SOP
  • Malignant neoplasm of the colorectum (ICD codes 153, 154.0, 154.1)
  • Benign neoplasms of the colon or rectum
  • Individual polyps of the colon or rectum
  • Neoplasms including polyps of the anal canal
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then:

  1. seek medical officer advice about further investigation, or;
  2. re-encode the condition, if appropriate.

The following investigations may be useful in establishing the diagnosis.

  • Report from a gastroenterologist
  • Colonoscopy
  • Histopathology report of the colon and/or rectum
Comments

Familial adenomatous polyposis is a rare condition in which hundreds or thousands of adenomatous polyps are found throughout the large bowel. The condition usually manifests around puberty and is familial although, occasionally, probably through spontaneous genetic mutation, there is no evidence of a familial link. It is also known as familial polyposis coli.

When familial adenomatous polyposis is accompanied by soft tissue tumours and bony tumours it is known as Gardner’s syndrome. When accompanied by malignant tumours of the central nervous system it is known as Turcot’s syndrome.