Rectovaginal Fistula

DEFINITION
Fistula between rectum/anus and vagina.
Greatly affect socieal wellbeing, sex and QOL.
Should be a tertiary referral centre specialist job.

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EPIDEMIOLOGY


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AETIOLOGY

Pathogenesis
Germline mutation of the APC gene in >90% (on long arm ch5)
--> truncated APC protein
This protein normally acts a tumour suppressor, in the wnt-signaling pathway & intracellular adhesions.

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BIOLOGICAL BEHAVIOUR

Pathophysiology


>100 adenomas; or fewer with a positive family history.
Classically, start in teenage years and Ca by mean age ~40.
- 'attenuated FAP' = fewer polyps (mean 25), diagnosed 10-15y later.

Associated with extra-GI disease
- esp. desmoid tumours
- also duodenal / peri-ampullary, pancreatic, papillary thyroid, CNS, hepatobiliary, others.
- congenital hypertrophy of retinal pigment epithelium, oesteoma, cutaneous lesions (epidermoid cysts, fibromas).

Genotype-Phenotype Correlations
Tends to be that certain APC gene deletions associated with specific variants of FAP
- eg attenuated type, or desmoid-associated, or Gardner's, or thyroid tumour associated etc.




Gardner's syndrome
- colonic polyposis with oesteomas, soft-tissue desomid, cutaneous lesions
Turcot syndrome - colonic polyposis with CNS tumours.


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MANIFESTATIONS

Symptoms


Local


Systemic

Metastatic / Complications

Endocrine


Signs

Observe

Palpate

Percuss

Auscultate

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INVESTIGATIONS
Biochemistry

Haematology

Microbiology

Imaging

Other

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MANAGEMENT
Conservative


Medical



Operative

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REFERENCES