Cystic Fibrosis and the GI Tract Flashcards
CF: pathophysiology:
- what type of mutation
- what chromosome
- what protein is affected
- what is the most common mutation
- autosomal recessive disease
- abnormal CL- and HCO3-
- due to mutation of CF transmembrane
conductance regulator gene - chromosome 7
- delta F508 is the most common (phe508del)
What is the physiological effect on GI of CF?
- leads to abnormally viscous mucous and
secretions in:- lungs
- bile and pancreatic disease
- intestines
- obstructed lumens leading to clinical
symptoms/signs
CF and GIT
CF (GI) History:
- typical vs atypical symptoms of heartburn
- dysphagia (difficulty swallowing)
- weight loss
- DHx
- Fx
- duration
- affect on Quality of Life
CF examination:
- anaemia (iron deficiency anaemia can be a GI
cancer) - weight loss
- nutritional status
- lymphadenopathy
- dentition
- hoarseness
CF (GI) Investigations:
- bloods
- oesophagogastroduodeniscioy (OGD): upper
GI tract endoscopy
Typical Symptoms of Heartburn:
complete later
Atypical Symptoms of Heartburn:
complete later
GI Tract upper ends at
duodenum
Grades of oesophageal slide
- inflammation
- stricturing
Gastro-oesophageal reflux disease (GORD)
- common in CF
- heartburn and regurgitation
- dysphagia (stricture/malignancy)
- oesphagitis
- stricture
- Barrett’s oesophagus: squamous cells change
to more robust columnar which is the most
common sign of oesophageal cancer
Management of Gastro-oesophageal reflux disease (GORD):
- history and examination
- OGD + Bx???
Management of acid reflux:
- Conservative:
- lifestyle: smaller meals, chew food well, 2-3
hours before sleeping, lose weight
- lifestyle: smaller meals, chew food well, 2-3
- Medical:
- proton pump inhibitors
- Histamine2 antagonsits (famotidine)
- Surgical:
- anti-reflux procedure: create a valve
between oesophagus and stomach- fundopication
- linx
- anti-reflux procedure: create a valve
Pancreatic Exocrine Insufficiency:
- deficiency of exocrine pancreatic enzymes
resulting in the inability to digest food properly
resulting in malnutrition - 2/3 CF patients experience this
- predominantly fat , malabsorption
- steatorrhea (freq, bulky, foul-smelling stools
that are difficult to flush/float) - failure to thrive in young patients: short,
skinny - weight loss
- fat soluble vitamins (ADEK) not absorbed
leading to coagulopathy (bleeding), hence
must be replaced
What are the fat soluble vitamins?
ADEK
Pancreatic Exocrine Insufficiency Treatment:
- Pancreatic Enzyme Replacement Therapy
(PERT) - PPI
- Fat soluble vitamins (ADEK)
Pancreatitis diagnosis:
Second biggest cause of death in CF patients is
hepatobiliary disease after pulmonary dysfunction
Hepatobilliary disease in CF:
- cirrhosis = permanent, irreversible scarring
- liver failure (rare for CF) = increase in toxins,
can’t form clots - cirrhosis and liver failure are independent of
each other - steatosis: Fatty liver (non-alcoholic) (common)
- gallstones (common)
- cholangiocarcinoma: cancer of biliary tree and
bile ducts
Pathophysiology of Hepatobilliary disease and CF:
- defective CFTR function
- focal billiary obstruction due to mucous and
increased secretions leading to - focal periportal inflammation
- leading to multilobular cirrhosis/biliary
cirrhosis - hepatosplenomegaly (big liver and big spleen)
- ***portal hypertension leading to varicies and
upper GI bleeding - hypersplenism: spleen is overactive, so
filtering blood too efficiently hence destroying
platelets
Why does liver disease and cirrhosis cause a big spleen?
- main blood vessel to liver is the portal vein
(30%) - portal vein is formed by splenic and inferior
mesenteric vein - backpressure into spleen which is dangerous
because mild trauma will cause burst and
bleed?
***What are varicies and why are they important
- blood capillaries ???
- most common cause of alcholics death
outside of liver failure
CF related liver disease:
- 2.5% of overall mortality in Cf patients
- single most important non-pulmonary cause
of death - 90% diagnosed before 20yrs old
- bloods: WBC high because inflammation,
platelets low if hypersplenism, billirubin high
(jaundice if 35) - elevated liver enzymes: 1-2.5x higher than
normal - cirrhosis more common in males
Management of CF related liver disease:
- history
- examination: signs of chronic liver diease
- blood test: WBC, plateltets, billirubin
- USS: is liver fibrosed?
- Fibroscan: severity of liver fibrosis
- Liver biopsy
- liver transplant: immunosuppression leading
to cancer
32 year old female with CF presents with right upper quadrant pain.
How would you assess?
differentials: pancreatitis, gallstones, hepatitis,
liver disease, Pardo nephritis,
kidney stones, pneumonia, tumour
in hepatic flexture of colon,
inflammation of ribs/muscles
- history
- examination: anaemia, clubbing, asterixis,
dupuytrens contracture, jaundice, massesm
hernias, peritonism, Murphy’s sign
RUQ pain
- tender, fever, tachycardia
- Murphy’s positive
- Ni else
What is the only cause of peritonitis that does not require surgery?
pancreatitis
GI causes of clubbing:
Coeliac
CF
asterixis
Asterixis:
liver flap: hands out, few seconds start flapping
Dupuytrens contracture is
tendons in hands remain contracted….
Murphy’s signs shows
sign of liver failure
What is Murphy’s signs?
complete later
Investigations for CF patients cholelithiasis (gallstones):
- Bloods: WCC, CRP, Amylase, LFTs, clotting
screen - Urinalysis: pregnancy test (women!)
- Imaging: Ultrasounds, CT: no radiation with
ultrasound, gallstones easier to see on an
ultrasound
Best imaging modality for gallstones (cholelithiasis)?
ultrasound
Image of gallstone
Complications of gallstones:
V good for yr 5
let liver lobe drains via left hepatic duct right liver lobe drains via right hepatic duct
under 8 is cystic duct which joins with left and right ducts
joins to form common bile duct into duodenum???
Treatment of Gallstones:
- Laparoscopic Cholecystectomy
- ***Endoscopic retrograde
cholangiopancreatography (ERCP) to treat
gallstones in bile duct - or lifestyle and deal with pain ideally take out
gallbladder
Patients with gallstone in bile duct presents with = choledocholithiasis
- blocks bile
- so no bile traveeling to duodenum for
digestion - jaundice when bile duct is blocked!!!
Intestinal Complications in CF:
- Meconium ileus
- Distal intestinal obstruction syndrome
- bowel obstruction
- cancer
Meconium ileus:
- first 1-2 days of life
- failure to pass meconium
- 15-20% of patients with CF
- family history
- AXR: obstruction, ground glass appearance
- Treatment:
- hypertonic enema (diagnostic and
therapeutic)
- rarely surgery, perforation leads to
meconium peritonitis
Cardinal signs of bowel obstruction (ileus):
- absolute constipation: no faeces of flatus
- distended abdomen
- nausea and vomiting
- colicky abdominal pain (comes and goes in
waves)
Distal intestinal obstruction syndrome (DIOS):
Normal diameter of small bowel, large bowel and caecum?
3,6,9 cm
GI Malignancy:
- upregulation of oncogenic genes
- inflammatory state in GIT promotes oncogenesis
- increased risk of GI cancers in CF:
- colon cancer commonest
- M>F
- from age of 40, 5 fold risk increase
- small bowel
- biliary tract
- pancreas
Difference between screening and surveillence
screening = picking disease in an asymptomatic
population
surveillance = know they have it and monitoring
What is hematochezia?
blood in stool
Colon Cancer Management:
- colonoscopic screening begins at 40 every 5
years - if polyps detected then screened every 3 years
- anaemia, change in bowel habit, weight loss,
hematochezia - Faecal Immune Test (FIT)
- Colonoscopy
- CT
- Capsule Endoscopy
Nutrition for CF patients:
- Pancreatic enzymes (Creon)
- Fat-soluble vitamins
- High-calorie diet to maintain weight
- Oral feeding best
- Enteral:
- PEG/jejunostomy - Parenteral
- Increased risk of sepsis
CF patients who have undergone transplantation are at an increased risk of cancer.
True or False?
True
Dysphagia in a CF patient is usually a sign of oesophageal cancer.
true or False?
False
usually secondary to reflux/benign stricture
