JOSE MARIA COLLEGE OF MEDICINE FOUNDATION

Philippine-Japan Friendship Highway, Sasa, Davao City

SECTION OF BIOCHEMISTRY

Clinical Oriented Session

Porphyria and Bile Pigments

Aubrey Unique Evangelista

February 24, 2021

1. What are the salient features of the patient? (10pts)

The salient features of the patient include:

- 56 y/o male
- Jaundice
- Grade II bipedal edema
- Severe skin itchiness
- Yellowing of the eyes and floor of the tongue
- Papular lesions on all extremities
- Ascites with dilated umbilical veins on the abdominal region
- Heavy drinker
- Chain-Smoker
2. What are the causes of unconjugated and conjugated hyperbilirubinemia? (10 pts)

- The General common causes of both the Unconjugated and Conjugated Hyperbilirubinemia

Unconjugated Hyperbilirubinemia Conjugated Hyperbilirubinemia

Increased production:
ABO incompatibility
Red blood cell enzyme disorder:
- G6PD deficiency
- Pyrimidine-5’-nucleotidase deficiency
- Pyruvate kinase deficiency
Hemoglobin disorders:
- Sickle cell anemia
- Thalassemia
- 2. Galactosemia
RBC membrane defects:
- Elliptocytosis
- Ovalocytosis
- Spherocytosis
-
Decreased Hepatic uptake
Decreased bilirubin conjugation
- Decreased hepatic
transferase activity
Reduce clearance:
1. Gilbert syndrome
2. Crigler-Najjar types 1 and 2
 Type 1: moderate
deficiency
Anatomic:
1. Biliary atresia
2. Choledochal cyst
3. Alagille syndrome
4. Bile duct stenosis
5. Neoplasm
6. Spontaneous bile duct perforation
Metabolic:
1. Tyrosinemia
3. Hypothyroidism
4. Alpha 1 antitrypsin deficiency
glucuronyl
Syndrome:
1. Dubin-Johnson syndrome
2. Rotor Syndrome
transferase
Infectious:
  Type 2: Absence of transferase 1. Urinary tract infection
2. Sepsis
3. TORCH infections
4. Epstein barr virus
5. E.coli
6. Streptococcus

Increased enterohepatic circulation Liver disease:

1. Breast-feeding 1. Hepatitis B infection
2. Breast-milk jaundice 2. Caroli disease
3. Ileus 3. Mucous plugging
4. Intestinal obstruction 4.
Congenital Infections:
1. Rubella
2. Cytomegalovirus
3. Herpes simplex infection
4. Toxoplasmosis
5.
Others:
1. Idiopathic neonatal hepatitis
2. Parenteral Nutrition-related cholestasis
3. Neonatal hemochromatosis

3. In our patient, what type of hyperbilirubinemia? (unconjugated or conjugated) and

why? (20pts)

- Based on the salient features of the patient, it falls off under the conjugated hyperbilirubinemia
category. No other familial history or present manifestations predisposes to unconjugated
hyperbilirubinemia. In the present health report, The patient stated that he consumes 1 bottle of
Tanduay per day. Hence, Alcoholism has been the main causative agent in this case. Alcohol
abuse severely damages the liver parenchyma cells and alters the structure and functions of the
liver. Persistent damage would lead to alcohol disease disorder or liver cirrhosis. Liver cirrhosis
is one of the unique causes of conjugated hyperbilirubinemia. Lastly, other distinctive signs and
symptoms that may be associated with various liver diseases including ascites, itchiness, bipedal
edema are present only in conjugated hyperbilirubinemia and absent in unconjugated
hyperbilirubinemia.

4. What would be the probable cause/etiology of his symptoms? (10pts)

Chronic Alcoholism

 Chronic high levels of alcohol consumption injure liver cells. Alcohol seems to
injure the liver by blocking the normal metabolism of protein, fats, and
carbohydrates. Alcohol can poison all living cells, causing liver cells to become
inflamed and die. Thirty percent of individuals who drink daily at least eight to
sixteen ounces of hard liquor or the equivalent for fifteen or more years will
develop cirrhosis.

Smoking

 Research reveals that smoking damages the liver. Smoking activates chemical
materials within the body. These chemicals that are manufactured by smoking
also provoke oxidative stress which is linked with lipid peroxidation. When this
occurs, the condition fibrosis is developed.
  Smoking increases the manufacturing of pro-inflammatory cytokines which is
related to liver cell damage. Smoking also contributes the continued succession of
chronic alcoholic-hepatitis as well as to the progression of cirrhosis

Age/Gender

 It is most common among people ages 45 – 75, killing more than 25,000 people each
year, 50% of which are alcohol related. It is also more common in men

5.What laboratory examinations will be useful for our patient? (10pts)

- Liver Biopsy: this is usually necessary to confirm the severity and type of liver disease

- SGPT and SGOT: elevations of SGPT, an enzyme found within the liver cells, indicate
that the liver cells are either leaky (internal contents are entering the blood) or damaged

- Liver Function Test: it is used to help diagnose and monitor liver disease or damage.
The tests measure the levels of certain enzymes and proteins in your blood.

-
- Serum albumin: a serum albumin test measures the amount of this protein in the clear
liquid portion of the blood. This test can help determine if a patient has liver disease or
kidney disease, or if the body is not absorbing enough protein.

- Ascites Fluid Test: a lab test that is done to look at fluid that has built up in the space in
the abdomen around the internal organs and can help determine the underlying cause and
identify signs of infection

- HBS-Ag: the hepatitis B surface antibody (anti-HBs) is the most common test. Its
presence indicates previous exposure to HBV, but the virus is no longer present and the
person cannot pass on the virus to others.
 - Anti-HAV IgM: this test is used to help diagnose a liver infection due to the hepatitis A
virus (HAV). This test may also be used to determine if the patient have produced
antibodies and developed immunity in response to a hepatitis A vaccine or a previous
hepatitis A infection.

- Anti-HCV: To determine if the patient have contracted the hepatitis C virus (HCV) and
to monitor treatment of the infection

- PT/PTT: since the Prothrombin time (PT) evaluates the ability of blood to clot properly,
it can be used to help diagnose bleeding. When used in this instance, it is often used in
conjunction with the PTT to evaluate the function of all coagulation factors.
Occasionally, the test may be used to screen patients for any previously undetected
bleeding problems prior to surgical procedures.

- B1 B2: elevation of serum bilirubin levels is related to hemolysis of RBCs and

subsequent re-absorption of unconjugated bilirubin from the small intestines. The
condition may be benign or may place the patient at risk for multiple
complications/untoward effects.

- CBC PC: CBC (complete blood count and platelet count): is a basic screening test and
is one of the most frequently ordered laboratory procedures. The findings in the CBC PC
give valuable diagnostic information about the hematologic and other body systems,
prognosis, response to treatment and recovery.

6. If the patient does not seek medical attention, will the patient’s condition worsen?
Will the patient have neurologic problems? (10pts)

- If the patient doesn't seek prompt medical treatment his condition will worsen. Once the
disease progresses, it further damages the hepatocyte and causes liver inflammation. The
inflammation alters the blood and lymph flow that eventually will lead to liver necrosis. Liver
necrosis affects the biliary tree causing an obstruction which in turn, further increases the level of
bilirubin in the blood and decreases the absorption of vitamin k. When this happens, the patient
is at risk of bleeding tendency. Carbohydrate and fat metabolism also decreases causing
hypoglycemia and malnutrition. Furthermore, there will be a deterioration of brain function
because the liver can no longer metabolize ammonia to urea, causing toxic substances to build up
in the blood, reach the brain, and cause changes in mental function such as confusion and
drowsiness

7.Specify the biochemical basis of the clinical laboratory terms of “direct bilirubin” and
“indirect bilirubin”. (20pts)

In the liver, most of the bilirubin is chemically attached to another molecule before it is released
in the bile. This "conjugated" (attached) bilirubin is called direct bilirubin; unconjugated
bilirubin is called indirect bilirubin

Indirect Bilirubin: Serum indirect bilirubin may increase in damage of uptake by the liver cells
or conjugation in the liver cells of bilirubin due to the failure of change of indirect bilirubin to
conjugate bilirubin.

Direct Bilirubin: If the bile ducts are blocked, direct bilirubin will build up, escape from the
liver, and end up in the blood. If the levels are high enough, some of it will appear in the urine.
Only direct bilirubin appears in the urine. Increased direct bilirubin usually means that the biliary
(liver secretion) ducts are obstructed.

8. What do you think was the cause of the pruritus? Itchiness of skin? (10pts)

- A various proposal has been made to explain the itch that associates with liver problems. Early
theories focused on defining a pruritogen discharged by the liver whose accumulation in the skin
leads to itch while later theories have focused more on determining neural circuits implicated in
the mediation of itch. Histamine is the principal mediator of allergic reactions and is released by
mast cells and circulating basophils. Conjugated hyperbilirubinemia causes impairment in bile
secretions which causes the increase in the accumulation of bile salts. Consequently, bile salts,
particularly chenodeoxycholate and deoxycholate emerged as the main causative factors in
pruritis. These agents stimulate the release of histamine from mast cells and plasma histamine
concentrations are also increased which in turn causes further itchiness