Question

In: Anatomy and Physiology

A 2-year-old girl is brought to your clinic. Developmentally normal, her parents had noticed her to...

  • A 2-year-old girl is brought to your clinic. Developmentally normal, her parents had noticed her to be bruising easily.

    Coagulation tests show:

Test

Patient

Reference Range

PT

13s

11-14s

APTT

105s

23-35s

Fibrinogen (Clauss)

2.7g/L

1.5-4.0g/L

Thrombin Time

13s

10-13s

1. What additional questions might you ask the parents?
2. Briefly outline how you would investigate the clotting abnormalities.

3. What are the possible explanations for these results?

The prolonged PT and APTT correct in a mix with normal plasma.

A 10-day-old baby, previously well, breast fed and born at home is found by his parents unconscious and bleeding from mouth and gums. The only history of note is that the mother had had a major post-partum haemorrhage and had required emergency admission to hospital.

A coagulation screen shows:

Test

Patient

Reference Range

PT

102s

11-14s

APTT

>120s

23-35s

Fibrinogen (Clauss)

1.9g/L

1.5-4.0g/L

Thrombin Time

13s

10-13s

1. What is the most likely diagnosis?
​​​​​​​2. How would you confirm this?

3. Why does this occur?

Solutions

Expert Solution

1.A 2yrs old girl with chief complains of easy bruising- 1st history taking is utmost important. since already coagulation study is given,it will further guide us to the probable diagnosis. ( only APTT prolonged,others being normal).All these guide us that it is most probably a clotting disorder.(HemophiliaA, hemophiliaB, von willibrand disease,)

Questions that we will ask the parents, duration of symptoms, Any family history of clotting disorders ,Any spontaneous bleeding history, sites of bruising ( any joints affected),such presentation in siblings,and previous history of treatment and medications if any.

Since APTT is prolonged we know further investigations we need to do are clotting time ,bleeding time, Vit k levels,coagulation factor level analysis,LFT and also a CBC can be done.

According to the results obtained further diagnosis is tobe made and treated

As we know in hemophiliaA-factor 8 deficiency

hemophilaB-factor9 deficiency

lab test in heridiatary coagulation disorder s,

hemophiliaA-APTT increased and Factor 8 decreased .others are normal(bleeding time,factor9,vWF)

hemophilia B- APTT increased and Factor 9 decreased.others are normal(BT,factor 8,VWF)

Von Willebrand disease-BTincreaed,APTT increased, VWF decreased, factor8&9 normal.

Prolonged APTT signifies defect in intrinsic pathway of coagulation and PT signifies defect in extrinsic pathway of coagulation.

2.A10 days old baby - unconscious and bleeding from mouth and gums, mother has history of postpartum haemorrhage and baby has been breastfed, in coagulation profile clotting abnormalities (PT and APTT prolonged)all these findings indicate towards warfarin therapy.

here we have ask if the mother has taken warfarin to control bleeding. warfarin is an oral anti coagulant acts by inhibiting vit k function used mainly as maintainance therapy.This can be excreated in milk.

we have to monitor PT, APTT level ,vit k level in the baby. In neonates liver is not upto function so can not synthesize clotting factors promptly, and gut flora are also not fully established so vit k is already deficient(so vit k im injected after birth). In such situation warfarin is transferred in baby via mothers breast milk which worsens the situation and causes spontaneous bleeding.Thus here we have to first stabilize the patient (unconscious) and give him vit k injection.


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