Resident :Mahmoud Abdo

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Staff round presentation
By Resident Mahmoud Abdo
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Personal history

• Eman shokry saleh , 27 years old .
• Mother of 3 ,youngest is 7 months .
• Housewife.
• Borne and living in Beni swif .
• No history of contact with canal water .
• Menarche at 11 years ,cycles were regular average
  in amount and duration .

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Complaint

• Right hypochondrial and epigastric pain.
• Bleeding per rectum .

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Present history

• The condition started 5 years ago with a gradual
  onset and progressive course of bleeding per
  rectum that was not related to defecation . It
  was not associated with fever or tenesmus . The
  patient attributed this bleeding to piles .
• 5 months ago, the patient started to develop dull
  aching right hypochondrial and epigastric pain
  with no special precipitating or relieving
  factors and irrespective of the bleeding
  episodes.
• There was no significant weight loss , anorexia
  or bleeding from other body orifices.
• There was no change in the bowel habits.

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• The patient sought medical advice, abdominal
  ultrasound was done and revealed enlarged liver
  with multiple focal lesions, then she was
  referred to our department for further work-up
• There was no symptoms suggestive of liver cell
  failure like abdominal distention , lower limb
  swelling or jaundice.
• On systemic inquiry , no other abnormality
  detected.

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Past history

• History of appendicectomy 10 years ago
• No previous history of blood transfusion
• The patient is not known to be diabetic or
  hypertensive.
• No history of specific drug intake in the last 6
  months.

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Family history

• Her mother died from colon cancer while she was
  35 years old.

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General examination

• The patient is fully conscious , of average
  intelligence , lying comfortably on bed .
• Comlexion pale .
  
• Pulse 100 bpm , regular .
  
• Temperature 36.5- 37.2 C all through the
  hospital stay .
• Blood pressure 110/70 .
  
• The rest of the general examination revealed
  no significant abnormality .

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• Chest , cardiovascular , neurological and fundus
  examination revealed no abnormality .

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Abdominal examination

• Shape distended .
• Recti divaricated .
• Scar of previous appendicectomy 3 cm in length ,
  healed by primary intention .
• No dilated or visible abdominal wall veins .
• No hernias or abnormal pigmentation .

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Liver

• Size
• Upper border is detected in the 5th space
  midclavicular line .
  
• Lower border
  
• Right lobe 5cm below costal margin in the
  M.C.L .
• Left lobe 10cm below xiphisternum in the midline
  .
  
• Edge rounded .
  
• Surface irregular .
  
• Consistency soft to firm .
  
  

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• Spleen is not felt.
• No ascites is detected clinically .

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Urine analysis

• Proteins
• Pus cells 6 - 8 /H.P.F
• R.B.C 1-2 /H.P.F
  

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Urinary proteins

• Urine volume 1500.000 ml /24hours
• Urine proteins 0.005 g/dl
• Urine proteins 0.08 g /24 hrs

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Urine culture
No growth
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Stool analysis

• R.B.Cs many .

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C.B.C

• W.B.Cs 12.800 / µl
• B 0
  
• M 5
• E 1
  
• St 3
  
• Seg 83
  
• L 8
• RBCs 2800 000 / µl
• HGB 6.5 gm /dl
• HCT 19.8
  
• MCV 70.4 fl
  
• MCH 23.3 pg
  
• MCHC 33.0 g/dl
  
• PLT 376 000/micro litre.
• Comment
• marked microcytic hypochromic anemia .
• mild PMN leucocytosis.

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Iron study

• Serum iron 21 µg/dl.(N 37-157)
• TIBC 405 µg/dl.(N 250-380)

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E.S.R

• First hour 100 mm
• Second hour 127 mm
• Corrected E.S.R
• First hour 50 mm
• Second hour 63.5 mm

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Liver biochemical profile

• Bil (total) 0.46 mg/dl
  
• ALT 38 u / l
  
• AST 34 u / l
• ALP 200 U/L
  
• T.Proteins 7.5 g / dl
• S.Albumin 4.2 g/dl

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Prothrombin time and conc.

• Prothrombin time 12.2 sec
  
• Prothrombin conc. 96
  
• I.N.R 1
  

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Kidney function

• Urea 15 mg/dl
• Creatinine 0.8 mg/dl

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Abdominal ultrasound

• Liver enlarged in size ,homogenous
  echopattern ,irregular surface and normal hepatic
  veins.There are multiple hepatic focal lesions
  ,the largest is 13x7 cm at the posterior segment
  of the right lobe ,hyperechoic with central
  necrosis. P.v measures 9mm in diameter and is
  patent. No I.H.B.R dilatation.
• Gall bladder average-sized with thickened
  wall ,no stones or mud inside , C.B.D is not
  dilated
• Spleen mildly enlarged (longest axis 13.5
  cm),homogenous echopattern
  
  
  
• Conclusion
  
• Multiple hepatic focal lesions (1ry Vs metastatic
  )
• Chronic noncalcular cholecystitis
  
• Mild splenomegaly
  

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Liver biopsy

• Gross liver core needle biopsy specimens,
  fragmented together measuring 1.2x0.2 cm
• Microscopic examination examination of several
  serial sections from the received specimen
  revealed the presence of a neoplastic growth
  involving all the core portions and composed of
  solid and irregular acini lined with atypical
  epithelial cells with enlarged hyperchromatic
  dark nuclei , increased N/C ratio, and rather
  eosinophilic cytoplasm,their lumens show
  occasional R.B.Cs.there are focal areas of dense
  fibrosis but thin fibrotic areas focally seen
  between the malignant acini .the solid areas were
  arranged focally in a trabecular pattern and are
  composed of the same atypical cells. No normal
  hepatic tissue is included in this specimen
• Conclusion liver needle biopsy specimen from a
  case with multiple hepatic focal lesions
  ?metastatic revealed Adenocarcinoma grade 2,
  likely H.C.C with a predominant acinar pattern Vs
  metastatic from a 1ry tumour in GIT ,pancreas or
  ovaries for further investigationsimaging
  profile and seromarkers.

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Tumor markers
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Colonoscopy

• Colonoscopic examination was done till the caecum
  and revealed
• Multiple variable-sized sessile and pedunculated
  polyps involving the whole colon with normal
  mucosa inbetween.Multiple biopsies were taken for
  histopathological examination.

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Histopathology of colonic polypi

• Examination of the specimen received revealed
• Mixed hyperplastic and adenomatous (mainly
  tubular)colonic polypi.The lamina propria was
  edematous and infiltrated by inflammatory cells
  with occasional lymphoid aggregates .No evidence
  of specific infection ,dysplastic or malignant
  changes in all sections examined.
• ? Diagnosis multiple hyperplastic and
  adenomatous (mainly tubular)colonic polypi
• ? N.B the probability of familial adenomatous
  polyposis is highly considered.

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Upper G.I Endoscopy

• Normal upper endoscopic findings.

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X-ray studies

• Skull Normal
• Mandible Unerupted tooth is seen most
  posteriorly on the right aspect of the alveolar
  margin of the mandible, with a thin sclerotic
  enclosing rim, yet with no definite cysts related
  to it .
• Chest Normal apart from
• Elevated right diaphragmatic copula.
• Bilateral mainly right-sided accentuation of
  bronchovascular markings.

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Classification of large bowel polyps

• Epithelial
• Adenomas - tubular, villous, tubulovillous
• Metaplastic polyps
• Mesodermal
• Lipoma
• Leiomyoma
• Haemangioma
• Hamartoma
• Juvenile polyps
• Peutz-Jeghers syndrome

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Adenomas

• Benign epithelial neoplasm
• They are pre-malignant
• Risk of malignancy increases with size
• Malignancy more common in villous rather than
  tubular lesions
• Most adenomas are asymptomatic
• 10 of population over 45 years have adenomatous
  polyps
• If do become symptomatic usually present with
  bleeding, mucous discharge or prolapse
• Villous adenomas may produce hypokalaemia but
  this is rare
• Diagnosis is often by sigmoidoscopy or
  colonoscopy
• Full colonoscopy essential to exclude other
  lesions
• Treatment is by transanal excision or
  colonoscopic snaring
• Patients require regular colonoscopic
  surveillance

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Adenocarcinoma arising in the head of the tubular
adenomaMicroscopically early adenocarcinoma
infiltrating the head and stalk region of this
tubular adenoma
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Adenocarcinoma arising in a villous adenoma
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Metaplastic polyps

• Small plaques approximately 2 mm in diameter
• Pathogenesis unknown
• Not pre-malignant

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Hyperplastic polypThe most frequent polyp of the
colon and rarely progresses to malignancy.
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Juvenile polyps

• Commonest form of polyp in children
• Can occur throughout large bowel but are most
  common in the rectum
• Usually present before 12 years
• Present with Prolapsing lump or rectal bleeding
• Not pre-malignant
• Treated by local endoscopic resection

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Juvenile polyp
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Juvenile polyps consist of an expansion of
normal cellular elements including the lamina
propria, gastric glands, and inflammatory cells
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Peutz-Jeghers syndrome

• Rare familial disorder
• Circumoral pigmentation and intestinal polyps
• Polyps found throughout gut but most common in
  the small intestine
• Presents in childhood with bleeding, anaemia or
  intussusception
• Polyps can become malignant

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Inflammatory pseudopolyps

• Occur as a complication of ulcerative colitis or
  Crohn's disease of the colon. They are completely
  harmless and carry no risk of cancer but they can
  be confused with adenomatous polyps on
  examination.

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Familial adenomatous polyposis 'F.A.P'
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Definition

• Autosomal dominant inherited disorder
  characterized by the presence of hundreds to
  thousands of adenomatous polyps throughout the
  colon.

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Incidence

• Age
• The average age of onset of plyposis is 16 years.
• The average age of onset of colo-rectal cancer is
  39 years.
• In attenuated F.A.P, the average age of onset of
  polyposis is 36 years and the averge age of onset
  of cancer is 54 years.
• Sex
• Male to female ratio 11
• Race
• F.A.P is described in all races

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Pathophysiology

• APC gene is a tumor suppressor gene
• Its inactivation is the initial step of the for
  the formation of an adenomatous polyp
• The APC gene mutation leads to loss of the normal
  APC protein which normally promotes apoptosis
• Rapid uncontrolled growth of cells that lack APC
  gene activity leads to accumulation of multiple
  genetic events that ultimately leads to cancer on
  top of the formed polyps

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History

• Family history.
• Unexplained rectal bleeding,diarrhoea or
  abdominal pain .
• Most patients with F.A.P are asymptomatic till
  they develop cancer.

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Examination

• Congenital hypertrophy of the retinal pigment
  epithelium (C.H.R.P.E)
• Osteomas of the skull and the mandible.
• Dental abnormality.
• Epidermoid cysts.
• Fibromas.
• Palpable abdominal mass.
• Palpable mass on rectal examination.

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Investigations
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• ? Lab studies
• C.B.C
• ? Imaging studies
• Sigmoidoscopy.
• Colonoscopy.
• Dental and skull x-rays.
• O.G.D
• Barium studies.
• CT scanning.
• ? Other tests
• In vitro protein synthesis.

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Multiple fundic polyps in a patient with familial
adenomatous polyposis
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Procedures

• Endoscopic polypectomy using a diathermy snare
  for histopathological confirmation.

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• The characteristic histology of a polyp from a
  patient with F.A.P is tubular adenoma.

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• After the patient is diagnosed.

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• 1- Medical care.
• 2- Surgery.
• 3- Family member screening.

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1-Medical care

• Colonoscopic surveillance every 36 months and
  removal of large polyps.
• After the diagnosis , O.G.D should be performed
  every 13 years.
• Examination of the ampulla by a side-viewing
  duodenoscope.
• Sulindac and celecoxib have no primary role in
  patients who did not have an operation .They
  decrease the number and the size of polyps in
  upper G.I.T , rectum and ileal pouch.
• Postoperative sigmoidoscopic surveillance and
  ablation of any polyp should be done every 36
  months.

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• Desmoid tumors may respond to anti-estrogen
  therapy (tamoxifen) and Sulindac since estrogen
  appears to stimulate their growth.
• Chemotherapy with doxorubicin and dacarbasine may
  be attempted .

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2-Surgery

• Colectomy with mucosal proctectomy and ileo-anal
  pouch pull-through is the procedure of choice in
  most centers
• Subtotal colectomy and ileo-anal anastomosis.
• Panproctocolectomy with terminal ileostomy.

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• 3- Screening
• Screening of family members of patients with
  F.A.P should start at the age of 12 years .
  Flexible sigmoidoscopy should be done every 12
  years until age of 35 then very 3 years.
• Genetic testing may eliminate the need for
  screening in some members of the family.

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Complications

• Colorectal cancer (100)
• Duodenal or periampullary adenocarcinoma
  (4-12)
• Desmoid formation (20 typically post-colectomy)
• Other cancers
• Medulloblastoma.
• Hepatoblastoma.
• Thyroid and adrenal cancers.
• Rectal cancer (retained rectum)

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Prognosis

• Median life expectancy of cases with untreated
  FAP is 42 years.
• Median life expectancy is increased after
  colectomy.
• Post-colectomy, upper GI malignancies and desmoid
  are the most common causes of death.

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Patient education

• After colectomy cancer surveillance
• Family members screening.

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Thank you..