Gallbladder/Biliary Tract Disorders Flashcards Preview

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Flashcards in Gallbladder/Biliary Tract Disorders Deck (89):
1

The liver produces 1.______ml of bile each day which either drains directly into 2.where or is temporarily stored 3.where?

4. The gallbladder then releases bile into duodenum under stimulation of hormone what?



1. 500-1500
2. the duodenum via the common bile duct
3. in the gallbladder via the cystic duct.

4. cholecystokinin (CCK).

2

1. CCK released after food is ingested causes what?

2. Bile is used to do what?

1. Spincter of Oddi to contract and relax which sends a bolus of bile into duodenum

2. emulsify fats and assist with the excretion of cholesterol

3

Biliary Tract Disorders
8

1. Cholelithiasis
2. Choledocholithiasis
3. Acute cholecystitis
4. Cholangitis
5. Primary sclerosing cholangitis
6. Primary biliary cirrhosis
7. Carcinoma of the biliary tract
8. Hyperbilirubinemia

4

1. What is colelithiasis?



2. Supersaturation of bile with cholesterol and GB hypomotility leads to what?

1. the formation of gallstones (choleliths) which are solid concretions of varying quantities of cholesterol, ca+, and bilirubin… which usually form in the GB, but may form in the bile ducts (choledocholithiasis).

2. the formation of cholesterol stones.

5

What are the types of gallstones?
2

1. Cholesterol stones 90%
2. Pigmented (10%)

6

What are the pigmented types of gallstones? 2

1. Black stones (contain Ca bilirubinate, associated with cirrhosis and hemolysis)

2. Brown stones (a/w biliary tract stasis & infection)

7

Risk factor for gallstones?
4

1. Fat
2. Fertile
3. Female
4. Forty

8

CHOLELITHIASIS: Symptoms and Signs
1. Most common presentation?
2. The cardinal symptom?
3. Describe this?
4. Pain may be brought on by what?


If uncomplicated may have normal PE and normal labs

1. Most patients with stones are asymptomatic, however, approximately 20% will become symptomatic during up to 15 years of follow-up

2. The cardinal symptom of gallstones is biliary colic;

3. steady RUQ pain radiates to back and right shoulder, may be accompanied by nausea.

4. Pain may be brought on after ingestion of fatty foods.

9

How do you differentiate a gall stone from a polyp?

There is a shadow cast by the stone and no shadow with the polyp

10

CHOLELITHIASIS Treatment
1. 60-80% treated how?
2. Symptomatic?
3. Consider prophylactic cholecystectomy for who? 5

1. asymptomatic/observation
2. cholecystectomy
3.
-Diabetics (Not routinely recommended)
-Porcelain gallbladder ( blue discoloration and brittle consistency)
-Sickle cell disease
-Hereditary spherocytosis (Not routinely indicated in patients w/o gallstones)
-Gastric bypass surgery (usually recommended)


11

What is porcelain gallbladder due to?

due to calcification from excessive gallstones

12

Gallstone complications?
6

1. Gallstone ileus
2. Gallstone pancreatitis
3. Acute cholecystitis\
4. Choledocholithiasis
5. Cholangitis
6. Bile Duct injuries

13

What is gallstone ileus?

stone erodes through GB wall and develops a cholecystoenteric fistula leading to obstruction of narrowest segment of bowel causing ileus

14

Acute cholecystitis: 10-20% of pts w/ symptomatic gallstones

What can this cause? 4

1. GB gangrene
2. GB perforation
3. GB empyema (pus in the GB)
4. Emphysematous cholecystitis

15

What would be precipating factor to cause Emphysematous cholecystitis?
4

1. GB vascular compromise,
2. stones,
3. impaired immune system,
4. infection w/gas-forming organisms - clostridium, E. coli, Klebsiella

16

PROTECTIVE FACTORS
for gallstones?
(whats the big one?)

1. Statins***
2. Ascorbic acid
3. Coffee- caffeinated
4. Vegetable protein

17

Choledocholithiasis
1. What is this?
2. If symptomatic how does the pt usually present? 2
3. What labs will be elevated? 2
4. What also may be elevated? 2

1. The presence of gallstones within the common bile duct
-May be asymptomatic in up to 30% of pts.
2. If symptomatic typically present with
-RUQ or epigastric pain, &
-nausea and vomiting.

3.
-LFT’s (ALT-alanine aminotransferase,
-AST-aspartate aminotransferase) are elevated,

4.
-bilirubin
-alkaline phosphatase may be elevated.

18

Complicated choledocholithiasis
can lead to?
3

Complicated choledocholithiasis
1. acute cholangitis,
2. acute pancreatitis,
3. hepatic abscesses

19

Choledocholithiasis: imaging
5
(imaging of choice/first choice?)

1. Transabdominal ultrasound
2. Abdominal CT
3. Endoscopic retrograde cholangiography (ERCP)
4. Intraoperative cholangiography or ultrasonography
5. Magnetic resonance cholangiopancreatography (MRCP)



20

Endoscopic Retrograde Cholangiopancreatography (ERCP) is the gold standard for what?
2

Gold standard for diagnosis of 1. CBD stones, and
2. sphincter of Oddi dysfunction

21

Endoscopic Retrograde Cholangiopancreatography (ERCP)

Advanatages? 3

Disadvantages?4

1. Therapeutic option when CBD stone identified
2. Stone retrieval and
3. sphincterotomy

Disadvantage
Complications:
1. pancreatitis,
2. cholangitis,
3. perforation of duodenum or bile duct,
4. bleeding

22

Magnetic resonance cholangiopancreatography (MRCP)

Advantages? 3

Indications?

1. Detects choledocholithiasis, neoplasms, strictures, biliary dilations
2. Sensitivity of 81-100%, specificity of 92-100% of choledocholithiasis
3. Minimally invasive- avoid invasive procedure in 50% of patients

If cholangitis not severe, and risk of ERCP high, MRCP useful

23

Magnetic resonance cholangiopancreatography (MRCP)
1. Disadvantages? 3
2. Contraindications? 3

1. cannot
-sample bile,
-test cytology,
-remove stone

2. Contraindications:
-pacemaker,
-implants,
-prosthetic valves

24

Treatment for choledocholithiasis?

How do we accomplish this? 3

REMOVE THE STONE

1. ERCP
2. Lithotripsy
3. Laparoscopic CBD exploration

25

Acute cholecystitis
1. Symptoms? 3

2. What is this associated with?
3. Usually caused by?

1. A syndrome of
- RUQ pain,
- fever, and
- leukocytosis

2. associated with gallbladder inflammation
3. usually caused by cystic duct obstruction.

26

Acute cholecystitis
1. 90% caused by what?
2. 10% caused by what? 2

1. impacted gallstone
2.
-bile stasis or
-acalculus cholecystitis

27

Acute cholecystitis caused by bile stasis or acalculus cholecystitis happens in what pts?

Prognosis?

occurs in critically ill patients.


associated with high morbidity and mortality

28

Acute cholecystitis
History and Physical?
9

1. RUQ or epigastric pain
2. may have radiation to right shoulder,
3. often occurs after fatty meal.
4. anorexia,
5. nausea and vomiting,
6. fever
7. Murphy's sign
8. Palpable enlarged GB in 30% of pts
9. Jaundice in about 10%

29

What is the murphy sign?

(+) Murphy’s sign
1. Have patient breathe out
2. Examiner places hand below costal margin at RUQ
3. Have patient breathe in, if tender, then+ Murphy’s sign

30

Acute cholecystitis
Labs? 3

Imaging? 2

1. LFTs and bilirubin elevated
2. CBC- leukocytosis with left shift
3. C-reactive protein elevated >3 mg/dl

1. Ultrasound
2. Radionuclide scans (HIDA scan)

31

What will the imaging for Acute cholecystitis show:
1. US? 4
2. Radionuclide scans (HIDA scan)? 1

1.
-stones or sludge,
-pericholecystic fluid,
-distended GB,
-thickened GB wall

2. failure of GB filling.

32

1. The imaging modality of choice for the gallbladder is what?
2. Why? 3
3. 95% sensitivity for detection of cholelithiasis. Diagnosis based on what?
4. >90% sensitivity for detection of acute cholecystitis. Diagnosis based on what? 3

5. What is this limited by? 2

1. ultrasound.

2. It is
-fast, real-time,
-non-invasive, and
-does not utilize ionizing radiation.

3. visualization of a mobile, hyperechoic, intraluminal mass with acoustic shadowing.

4.
-presence of cholelithiasis, gallbladder wall thickening,
-pericholecystic fluid,
-and a sonographic Murphy sign.

5. Limited by
-skill of operator, and
-patient’s body habitus.

33

Cholescintigraphy (HIDA scan)
Indications?
2

1. Functional assessment of the hepatobiliary system
2. Integrity of the hepatobiliary tree

34

Cholescintigraphy (HIDA scan)
Integrity of the hepatobiliary tree
-What are we evaluating? 5

1. Evaluation of suspected acute cholecystitis
2. Evaluation of suspected chronic biliary tract disorders
3. Evaluation of common bile duct obstruction
4. Detection of bile extravasation
5. Evaluation of congenital abnormalities of the biliary tree

35

What is Cholescintigraphy (HIDA scan)?

Nuclear medicine exam uses a technetium labeled hepatic iminodiacetic acid (HIDA), which is injected IV and is taken up by hepatocytes and excreted into bile.

36

1. What is a normal HIDA?

2. What does slow uptake mean?

3. Filling of GB/CBD w/delayed or absent filling of intestine indicates?

4. Non-visualization of GB with filling of the CBD and duodenum indicates?

5. also can give cholecystokinin to calculate what? and reproduce what?

1. Uptake by liver, GB, CBD, duodenum within 1hr…..normal

2.hepatic parenchymal disease

3. obstruction of ampulla

4. cystic duct obstruction and

5. also can give cholecystokinin to calculate GB ejection fraction & can reproduce symptoms

37

Requirements for HIDA Scan
1. Patient preparation?
2. What may cause a false positive? 2

1. fasted for 2-4 hours
2.
-Fasted for > 24 hrs
-TPN

38

Additional information you need on the Hx before a HIDA scan?
5

1. History of previous surgeries, especially biliary and gastrointestinal
2. Time of most recent meal
3. Current medications
esp. opioid compounds
-Delaying the study for 4 hours after the last dose
4. Bilirubin and liver enzyme levels
5. Results of ultrasound

39

Treatment for cholecystitis
4

1. Admit to hospital- supportive care, NPO, IV fluids, analgesia, close monitoring of vitals and urinary output
2. Antibiotics
3. Early laparoscopic cholecystectomy preferred treatment… eventually will need surgery!*****
4. Emergency surgery for advanced disease or sepsis

40

Cholecystitis antibiotics?
3

1. ciprofloxacin or levofloxacin
2. +Flagyl, or
3. cefuroxime (Ceftin)

41

If fail medical management and poor surgical candidate…. then what do we do? 2

percutaneous cholecystostomy tube + antibiotics

42

Cholecystitis complications?
8


What are red flags to look for? 4

1. Emphysematous cholecystitis
2. Gangrenous cholecystitis
3. Pericholecystic abscess formation
4. Sepsis
5. Peritonitis
6. Ascending cholangitis
7. Cholecystoenteric fistula
8. Perforation Elderly, diabetic, & recurrent cholecystitis
10% present with complications

Look for:
-fever + shaking chills,
-high WBC,
-increased abdominal pain,
-persistent symptoms.

43

Chronic Cholecystitis
1. Occurs when?
2. Usually due to what?
3. Symptoms from what?
4. Mild histologic inflammation can lead to what? 5

1. Occurs after repeated episodes of mild attacks
2. Usually due to presence of stones
3. Symptoms from transient obstruction of cystic duct by gallstones
4. Mild histologic inflammation can lead to
-shrinking,
-scarring,
-thickened walls,
-mucosal atrophy and
-fibrosis of GB wall.

44

Chronic Cholecystitis
1. How does pain present?

2. Usually precipated by what?

3. May have what symptoms? 2

4. Usually what symptoms do we not have? 2

5. Can you palpate the GB?

6. Trigger?

7. Episodes variable intervals: example?

1. Pain: RUQ pain that comes and goes, may be referred to right shoulder or right scapula, subsides in 30 minutes.

2. Usually precipitated by a fatty meal

3. May have nausea, vomiting

4. Usually no fever, WBC normal

5.Gallbladder not palpable

6. Trigger: ingestion of fatty foods

7. Episodes variable intervals: days to years

45

1. Treatment
for chronic Cholecystitis?
2. Look for concomitant what?
3. Prevents future complications by what? 3

1. Cholecystectomy by laparotomy or laparoscopy***
2. choledocholithiasis
3. Prevents future complications:
-acute cholecystitis,
-choledocholithiasis,
-cholangitis

46

1. What is porcelain gallbladder?


2. Thought to be an uncommon manifestation of what?

3. Patients with porcelain gallbladder are usually _________?

4. the condition is usually found how?

1. Extensive calcium encrustation of the gallbladder wall has been given the term "porcelain gallbladder“ to emphasize the blue discoloration and brittle consistency of the gallbladder wall at surgery

2. chronic cholecystitis

3. asymptomatic

4. incidentally on plain abdominal radiographs, sonograms, or CT

47

1. An uncommon condition; however important to recognize the imaging characteristics because of the risk of what in porcelain gallbladder?

1. GB adenocarcinoma

Surgery should not be delayed even if the patient is asymptomatic, because of the association of porcelain gallbladder with carcinoma, although the reported incidence of is highly variable (5-60%).

48

1. Acute cholangitis (inflammation or infection of the bile duct system) is caused primarily by what?

2. The organisms typically ascend from where?

3. The most important predisposing factor for acute cholangitis is what?

1. Bacterial infection

2. Duodenum

3. biliary obstruction and stasis secondary to biliary calculi (CBD stone) or benign stricture

49

Cholangitis
1. What is Charcots triad?

2. Can start mild then quickly progress to severe and include what? 2

3. In severe cases, bacteremia and sepsis may lead to what? 2

1. Charcot’s Triad (50-70%)
-RUQ pain
-Jaundice
-Fever and chills

2. sepsis, and shock

3.
-hypotension and
-altered mental status (Reynolds' pentad).

50

Septic Cholangitis: 50% mortality rate, usually life threatening sepsis.
Describe this?

this is a bacterial infection superimposed on an obstruction of the biliary tree most commonly from a gallstone, but it may be associated with neoplasm or stricture

51

Cholangitis
Labs will show? 6
Imaging? 2

1. leukocytosis,
2. elevated LFTs,
3. elevated CRP,
4. blood cultures usually gram-neg but may be gram-positive or anaerobes,
5. ABGs in severe cases will be metabolic acidosis,
6. may be in renal failure with elevated BUN and creatinine

1. Ultrasound
2. ERCP

52

What will the following show:
1. Ultrasound
2. ERCP

1. Ultrasound: dilated bile duct, CBD stones
2. ERCP: bile duct stone or obstruction or stricture, also is therapeutic as it can extract stone

53

Cholangitis treatment?
4

1. Hospitalize, treat infection with IV antibiotics
2. Remove stones (ERCP)
3. Blood cultures should be performed in all patients in whom cholangitis is suspected
4. Biliary drainage (on elective basis)

54

1. Primary Sclerosing cholangitis
is what?
2. What develops? 2
3. Progressive destruction of bile ducts may progress to what?
4. Common in what population?
5. Closely associated with what?
6. Increased risk for what? 4

1. A chronic inflammatory cholestatic disease; characterized by diffuse inflammation of biliary tract

2. Fibrosis and strictures develop

3.
-cirrhosis,
-end-stage liver disease

4. More common in men, age 20-40

5. Closely associated with ulcerative colitis

6. Increased risk for
-cholangiocarcinoma,
-gallbladder CA,
-colon CA
-in patients with cirrhosis, hepatocellular carcinoma.

55

Presentation of PSC
6


Late presentation will develop symptoms of what? 2

What labs will be elevated? 2

1. Progressive, obstructive jaundice
2. Malaise, fatigue,
4. pruritus,
5. anorexia,
6. dyspepsia

1. cirrhosis
2. portal hypertension

1. Elevated Alk Phos (3-10x normal),
2. ALT, AST(2-3x normal)


56

Diagnosis of PSC
1. Difficult diagnosis to make, but is demonstrated by characteristic what?

2. What is found in 70%, A number of other autoantibodies may also be present, but of uncertain clinical significance?

3. What may be an alternative to ERCP will see multifocal stricturing and dilation of bile ducts as well, but less invasive?

1. multifocal stricturing and dilation of intrahepatic and/or extrahepatic bile ducts on ERCP.

2. ANCA (anti-neutrophil cytoplasmic antibodits)

3. MRCP (magnetic resonance cholangiopancreatography)

57

Treatment of PSC
2

1. Balloon dilation or stenting can improve clinical, biochemical and cholangiographic appearances
(can delay transplantation)

2. only liver transplantation shown to improve survival




Immunosuppressive and anti-inflammatory agents and direct injection of steroids into biliary tree ineffective!

58

Primary Biliary Cirrhosis (PBC)
1. Is what?
2. Peak incidence?
3. Portal inflammation and autoimmune destruction of what?
4. Leads to what? 2
5. 90-95% test positive for what?

1. Slowly progressive autoimmune liver disease

2. 90% females
Peak incidence in 40’s

3. intrahepatic bile ducts

4. Leads to cirrhosis and liver failure

5. antimitochondrial antibody (AMA)

59

Clinical features of PBC
1. 50% present how?
2. Most common symptoms? 2

3. Skin hyperpigmentation due to what?

4. Rheumatic symptoms, musculoskeletal complaints, frequently due to what?

5. What other diseases are associated? 4

6. Leads to what? 2

1. ~50% asymptomatic at diagnosis
2. Fatigue and pruritus most common symptoms~20%

3. melanin deposition

4. an inflammatory arthropathy

5.
-Hyperlipidemia,
-hypothyroidism,
-osteopenia,
-autoimmune diseases

6. Portal hypertension, liver failure

60

Physical examination in PBC
1-3


What are late manifestations of disease and imply cirrhosis?
4-8

1. Dry hyperpigmented skin, excoriations
2. Xanthelasmas (yellow plaques near the inner canthus of the eyelid)
3. Hepatomegaly ~70%

4. Jaundice,
5. spider nevi,
6. temporal and proximal limb muscle wasting,
7. ascites, and
8. edema

61

Diagnosis of PBC
Need 2 of 3 criteria

1. Positive AMA (antimitochondrial Ab)
2. Abnormal LFT
3. Compatible biopsy shows destruction of interlobular bile ducts

62

PBC which LFT levels are usually high?
2

1. typically alk phos
2. GGTP very high

63

Treatment: PBC

Ursodeoxycholic acid

64

Treatment:-Ursodeoxycholic acid
(UDCA (ursodiol))

What does it do? 3

Who does it not work in?

1. Reduces bilirubin, LFTs, cholesterol and IgM
2. Delays fibrosis and varices
3. Reduced risk of need for liver transplantation and death over 4 years


Does not work in advanced disease

65

Treatment: PBC Other drugs?
3

If they have end stage liver disease?

Other Drugs: if there is significant inflammatory component
1. Colchicine
2. Methotrexate
3. Budesonide


Transplant

66

Carcinoma of the Biliary Tract:
Cholangiocarcinoma (CA of bile ducts)
1. What is dangerous about this cancer?
2. Known risk factors?4

1. is often in an advanced stage by the time symptoms develop, which may limit treatment options

2. Known risk factors for cholangiocarcinoma include
-Primary sclerosing cholangitis
-Congenital liver malformations
-Infection with parasitic liver flukes and
-Exposure to Thorotrast (thorium dioxide) which is a chemical formerly used in medical imaging

67

Diagnostic Testing
Cholangiocarcinoma
4

1. Ultrasound
2. CT Scan
3. MRI
4. Cholangiography via ERCP

68

Cholangiocarcinoma
1. Both ultrasound & CT can detect what? 2

2. CT adds the ability to detect what?

3. MRI has also been used to determine what?

4. Cholangiography allows for what?

1.
-actual tumor and the extent to which it has spread.
-Dilatation of the gallbladder or bile ducts can be seen.

2. enlarged lymph nodes throughout the abdominal cavity

3. the involvement of bile ducts and blood vessels.

4. access to the biliary tree in cases where ERCP has been unsuccessful

69

Carcinoma of the Biliary Tract
Treatment:
1. The majority of cases of cholangiocarcinoma present as what?
2. Due to what?
3. So how are these pts treated? 2

1. inoperable disease
2. due to it’s advanced stage in
which case patients are generally
3. treated with
-palliative chemotherapy,
-with or without radiotherapy

70

Cholangiocarcinoma is considered to be an incurable and rapidly lethal disease unless what?

all of its tumors can be fully resected.

Patients may receive adjunctive chemotherapy or radiation therapy after surgery to improve the chances of cure

71

Carcinoma of the Biliary Tract
1. What offers the only potential chance of cure in cholangiocarcinoma?

2. For non-resectable cases, the 5-year survival rate is __% where the disease is inoperable because of what?

3. Overall median duration of survival is what in inoperable, untreated, otherwise healthy patients with tumors involving the liver by way of the intrahepatic bile ducts and hepatic portal vein?

1. Surgical resection

2. 0, distal lymph nodes metastases

3. less than 6 months

72

Gallbladder cancer (GBC) is an uncommon. Prognosis?

High incidence where?

How are the majority of these found?

highly fatal malignancy

High incidence in South America (Chile) maybe due to high prevalence of gallstones and/or salmonella infection

The majority are found incidentally in patients undergoing exploration for cholelithiasis

73

Gallbladder cancer (GBC) risk factors?
7
(most important?)

1. Gallstones
2. Gallbladder Polyps
3. Chronic Salmonella infection
4. Abnormal pancreaticobiliary duct junction
5. Porcelain gallbladder*****
6. Diabetes
7. Obesity

74

Presentation/Diagnostic Imaging of gallbladder cancer
3 ways?

Presentation is non-specific, usually incidental finding on imaging or intraoperatively.

Three Presentations:
1. GB CA discovered during or after lap/open cholecystectomy for assumed benign disease

2. GB CA suspected after diagnostic evaluation and found on imaging

3. GB CA in advanced stage at presentation

75

Histology / Pathology of gallbladder cancer
4

1. Adenocarcinoma 80-90%
2. Small cell neuroendocrine tumors 7%
3. Adenosquamous or squamous cell carcinoma 6%
4. Lymphoma, Sarcoma 5%

76

Surgical Management
of GB cancer?
4 kinds

Only 10-30% resectable @ time of diagnosis
1. Simple cholecystectomy
2. Radical cholecystectomy
3. Radical cholecystectomy with anatomic liver resection
4. Radical cholecystectomy with Whipple procedure…. (pancreaticoduodenectomy)

77

Tumors of the Ampulla of Vater (aka the hepatopancreatic duct….union of the pancreatic duct and the common bile duct)

1. The average age at diagnosis of ampullary carcinomas is what?
2. What are the most common malignant tumors of the ampulla of Vater? 2

1. 60 to 70 years old
2. Adenomas and adenocarcinomas most common

78

Cancer of the what occurs more commonly near the ampulla than at any other site in the small intestine?

intestinal mucosa

79

Clinical Features
of Tumors of the Ampulla of Vater
1. Presents most commonly with what?
2. Other symptoms?4
3. 1/3 of patients have what?
4. Other tests results?

1. Present most commonly with obstructive jaundice (80%)
2.
-Weight loss,
-anorexia,
-fatigue,
-abdominal pain,

3. Occult gastrointestinal bleeding is common (one third of patients)

4. Positive fecal occult blood test result

80

Imaging for ampulla of vater tumors?
4

1. US or CT… CT more sensitive, but US more readily available
2. ERCP
3. EUS (endoscopic ultrasound)
4. MRCP

81

1. Treatment of ampulla of vater tumors?
2. Survival in patients with unresectable ampullary adenocarcinoma is what?
3. The overall 5-year survival rate for patients with resected ampullary cancer ranges from what to what?

1. Surgery: Whipple operation is considered the standard approach for ampullary cancer

2. 5 to 9 months
3. 25% to 55%

82

1. Bilirubin is a yellow pigment formed by breakdown of what?

2. Unconjugated bilirubin transported to liver
Bound to _______ because _______ in water

3. Transported into _________ & conjugated

4. Conjugated with what?
Secreted into bile

5. In ileum & colon… converted to ___________?

10-20% reabsorbed into portal circulation and re-excreted into bile or into urine by kidneys

1. heme present in hemoglobin

2. albumin, insoluble

3. hepatocyte

4. With glucuronic acid → now water soluble

5. urobilinogen

83

Causes of Hyperbilirubinemia
Increased production of bilirubin: Hemolytic disease causes?

6

1. Isoimmune-mediated hemolysis (ABO or Rh(D) incompatibility).
2. Hereditary spherocytosis, elliptocytosis
3. Erythrocyte enzymatic defects (G6PD) deficiency, pyruvate kinase deficiency, and congenital erythropoietic porphyria.
4. Sepsis
5. Polycythemia
6. Sequestration of blood within a closed space, which occurs in cephalohematoma.

84

The most common hereditary cause of increased bilirubin (5-10% of the population)?

GILBERTS SYNDROME

85

Causes of Hyperbilirubinemia: Decreased clearance of bilirubin? 1


Inherited defects in the UGT1A1 gene, which catalyzes the conjugation of bilirubin with glucuronic acid, decrease bilirubin conjugation. This reduces hepatic bilirubin clearance and increases total bilirubin levels. ( aka Gilbert's Syndrome).


GILBERTS SYNDROME

86

1. What does gilbert syndrome produce?


2. What may appear under conditions of exertion, stress, fasting and infections, but otherwise patients are usually asymptomatic?

1. Produces an elevated level of unconjugated bilirubin in the bloodstream, but normally causes no serious consequences


2. Mild jaundice

87

What is gilbert syndrome caused by?

Caused by a 70-80% reduction in the glucuronidation (the addition of glucoronic acid to a substrate) activity of the UGT1A1 enzyme
This enzyme is also responsible for some of the liver’s ability to detoxify certain drugs

88

What will lab work show for gilbert's syndrome?
3

Lab work will show predominantly
1. elevated unconjugated bilirubin (indirect) bilirubin,
2. while conjugated (direct) bilirubin is usually WNL and
3. all other LFTs will be normal

89

Gilbert syndrome treatement?

-No specific therapy is required for patients with Gilbert syndrome.
-The most important aspect of care is recognition of the disorder and its benign nature.
-Its mode of inheritance should also be discussed to prevent unnecessary testing in family members.