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Familial Adenomatous Polyposis Syndrome

 Syn. FAP

Signs & Symptoms

 Family history of FAP #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 1292, 324]
Epidermoid cyst
Note: Extragastrointestinal manifestations of FAP
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 1292]
Bilateral congenital hypertrophy of the retinal pigment epithelium
Note: Extragastrointestinal manifestations of FAP
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 1292]
Enlargement of polyp size #criteria
Note: Polyp size greater than 10 mm
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis]

Physical Examination

Lab / Serology

 APC gene mutation #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 1292]
Villous #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis]
Mutations in POLE
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes]

Imagin Study

Complication

 Colorectal cancer in middle age
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 1292, 324]
Gastric polyps
Ref: Schwartz [ 324]
Upper intestinal neoplasms
Ref: Schwartz [ 324]

Risk Factors

Cause

 Hundreds polyps in the colon #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 324]
Hundreds polyps in the rectum #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 324]
Thousands polyps in the colon #criteria
Ref: Uptodate [ Clinical manifestations and diagnosis of familial adenomatous polyposis] Epocrates [ https://online.epocrates.com/diseases/652/Familial-adenomatous-polyposis-syndromes] Schwartz [ 324]

Other