Question

This is the case of a 4 year old boy who presents with the recent history of vomiting blood one week after a tonsillectomy. Two years ago he bit his tongue and it bled one week. His maternal grandfather has a history of frequent bleeding problems. His mother, father, and two sisters have no bleeding problems.

INITIAL LABORATORY TESTS:

Hct: 30.0%

WBC: 5,300 mm³

Platelet count: 395,000 mm³

Bleeding time: normal

Clot retraction: good at 2 and 24 hours

PT: 11 seconds

APTT: 35 seconds

Fibrinogen: 310 mg

1. A. What in the history would suggest the kind of bleeding problem the patient has?

B. What are the possibilities?

ADDITIONAL COAGULATION STUDIES:

Factor IX: 100%

Factor VIII: 30%

VonWillebrands cofactor: 180% (45 – 140%)

Factor VIII Related Antigen: 135% (45 – 185%)

Platelet adhesion: 97% (greater than 75%)

Platelet aggregation: Normal to ADP, epinephrine, collagen, ristocetin

2. What is the diagnosis?

CASE STUDY #3:

This is the case of a 47year old man admitted for elective surgery. The patient has had no difficulty with bleeding associated with either trauma or dental surgery. His family members (maternal and paternal) had no history of abnormal bleeding.

Routine laboratory work on admission included:

WBC: 8,900 mm³

Hct: 38%

Platelet count: 315,000 mm³

Bleeding time: normal

PT: 10 seconds

APTT: greater than 150 seconds

1. The negative bleeding, history together with the markedly prolonged APTT suggest what two possibilities?

a.

b.

Additional coagulation studies were:

APTT Mixing study:

Straight patient sample: >150 seconds

1:1 dilution (patient + pooled normal plasma): 36 seconds

1:1 dilution (patient + pooled normal plasma) incubated: 37.5 seconds

2. Of the 2 possibilities above, what has been ruled out by the mixing study? Why?

3. What factor assay would you run to confirm the diagnosis?

Case Study #4:

This case study is of a 57 year-old male that presents with jaundice and the following laboratory data:

Test	Result	Reference Range (Enter Range)
Peripheral blood smear	Macrocytosis Target cells
Platelet count	355 X109/L
PT	25 seconds
PTT	65 seconds
AST	89 U/L
ALT	57 U/L
TBil	9 mg/dL

1. Enter the reference ranges for the listed tests.

2. What factor deficiencies are likely causing the prolonged times?

3. What is the likely diagnosis considering the laboratory results and clinical presentation?

4. What would be the treatment for this patient?

Answer 1

Case study 1#

A. According to the history ,it would be Hemophilia. Because Hemophilia is hereditary and the males are affected by this while the femalea are the carriers.

B. The possibilities are :-

- Hemophilia A

- Hemophilia B

- Factor Xlll deficiency

- Factor X deficiency

- Fibrinogen deficiency

#. The diagnosis is Hemophilia

Case study 3#

Two possibilities are :-

a. Deficiency of one of the non -essential coagulation factor

b. Presence of a factor inhibitor like lupus anticoagulant , anticardiolipin antibody titer etc .

By conducting the mixing study it revealed that lupus anticoagulant and anticardiolipin antibody titer is positive .

Case study 4#

# The reference ranges are :-

Platelets - 150000 to 350000

PT - 11 to 13.5secs

PTT- 25 to 35secs

AST - upto 50

ALT - upto 50

Total Bilirubin - 0.1 mg to 1.1 mg/dl

#. The factor deficiencies which are causing prolonged times are :-

- coagulation factor deficiency like factor Xlll, X

- coagulation factor inhibitor

# The diagnosis is hepatic failure

# Treatment for this patient include :-

- Blood and plasma exchange

- Liver support system

- Treatment with antacids , vitamins and nutritional supplements ,balanced diet , potassium sparing diuretics etc.

- Avoidance of alcohol