Case study 019

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Congratulations - you have completed Case study 019.

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Question 1

Anna is a 44-year-old women who comes to the clinic because of severe fatigue, dry skin, and extreme itchiness all over her body. She also noticed recurrent eye infections and yellowish discoloration of her skin and eye. Her physical examination revealed the following results. On examination:

Height: 159 cm, Weight: 80 Kg, BMI: 31.6
BP: 140/94 mmHg, Heart rate: 72/min, Respiratory rate: 20/min, Temperature: 37.3°C, O₂ SAT: 98%
White, dry tongue (oral thrush). Yellow discoloration of sclera and skin. Xanthelasma on both eyelids.
The liver is enlarged and tender on palpation. The spleen can be palpated under the left costal margin.

Which organ function would be mostly affected in Anna’s case?

Question 1 Explanation:

Anna’s history and physical examination findings, such as a middle-aged woman with obesity, severe fatigue, pruritus, jaundice, right upper quadrant discomfort, and hepatomegaly indicate dysfunction of the liver.

Question 2

Anna’s laboratory examination showed:

Blood analysis:
- CBC:
  - RBCs: 3.9 x 10¹²/ L, Hemoglobin: 126 g/L, Hematocrit: 0.34,
  - MCV: 80 fL, MCH: 29 pg, RDW: 14.7%, Reticulocytes: 0.9%, ESR: 12 mm/hour,
  - WBC: 10 x 10⁹/l, (Neutrophils: 6.7 x 10⁹/L, Lymphocytes: 3.8 x 10⁹/L, Basophils: 0.09. x 10⁹/L, Eosinophils: 0.44 x 10⁹/L, Monocytes: 0.7 x 10⁹/L),
  - Platelet counts: 170 x 10⁹/L
- Na: 138 mmol/L, K: 4.1 mmol/L,
- Glucose: 6.8 mmol/L, Creatinine: 80 umol/L, Uric Acid: 377 mmol/L
- Triglycerides: 4.2 mmol/L, Cholesterol: 6.7 mmol/L, LDL: 4.2 mmol/L, HDL: 1.4 mmol/L
- Total bilirubin: 86 umol/L, conjugated bilirubin: 74 umol/L
- AST: 155 U/L, ALT: 273 U/L, ALP: 332 IU/L, GGT: 110 IU/L, 5'-NT: 20 IU/L, Albumin: 37 g/L, LDH: 276 U/L
- INR: 1.1, Prothrombin time: 13 sec
- B₁: 8.8 umol/L, Iron: 27 umol/L, Ferritin: 211 pmol/L, Copper: 17 umol/L, Folic acid: 4.31 nmol/ml
- Alpha fetoprotein: 10 mg/L
- Viral serology: HBsAg, HCV Ab, HAV IgG: negative

Stool analysis: color: pale, urobilin: negative

Urine analysis: color: dark, pH: 6.8, specific gravity: 1023, osmolarity: 737 mmol/kg; glucose, ketones: negative, bilirubin: ++, urobilinogen: negative, bile salts: ++, WBCs and RBCs: 4-6 and 0/HPF, squamous epithelial cells, casts, bacteria, yeast: negative.

What are the most common diseases that can be indicated by the elevated alkaline phosphatase enzyme (ALP) level?

Question 2 Explanation:

The normal value of alkaline phosphatase (ALP) in adults is 40-160 IU/L. Alkaline phosphatase can be found in many different tissues, but mostly in the Kupffer cells of the liver, biliary epithelial cells, and bone. Alkaline phosphatase level becomes elevated in obstructive biliary diseases (since ALP is excreted into the bile), in cirrhosis, and in any condition when bone growth is present (such as new bone growth or metastatic bone tumor).

Question 3

Notice the bilirubin measurements in Anna’s case:

Total bilirubin: 86 umol/L, conjugated bilirubin: 74 umol/L

What would be the unconjugated bilirubin level and how can it be interpreted?

Question 3 Explanation:

Unconjugated bilirubin can be calculated as the difference between the conjugated bilirubin and the total bilirubin. In this case, you can notice that the hyperbilirubinemia mostly caused by increased conjugated bilirubin level. For the normal values of laboratory tests, please refer to the “Normal Values of Laboratory Tests” table in the Resource section.

Question 4

Anna’s laboratory examination also included the following tests:

ANA (anti sp-100)	positive
AMA	positive
ALKM	negative
ASMA	negative

What is the importance of these laboratory tests?

Question 4 Explanation:

These tests detect the presence of different autoantibodies in the serum which indicates an autoimmune disorders. There are several autoantibodies that can be detected in patients with autoimmune disorders, but the followings are the ones related to disorders that can affect the liver: ANA (Antinuclear Antibody), AMA (Antimitochondrial Antibody), ALKM (Anti-Liver/Kidney Microsomal antibody), and ASMA (Anti-Smooth Muscle Antibody).

Question 5

Which of the following mechanisms play a role in Anna’s pathological condition?

Autoimmune activation
Proliferation of the biliary epithelial cells
Apoptosis of the biliary epithelial cells
Destructive cholangitis
Liver fibrosis (cirrhosis)

Question 6

What is Anna’s diagnosis?

Question 6 Explanation:

Primary biliary cholangitis (or formerly known as primary biliary cirrhosis, PBC) is an autoimmune disease that can be characterized by destructive cholangitis, damage of the intrahepatic bile ducts and the presence of the AMA (anti-mitochondrial antibody). The destruction of the biliary epithelial cells and the chronic inflammation eventually leads to liver fibrosis or cirrhosis hepatis.

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