Platelet Disorders

Question 1

Hallmark of platelet disorders

Answer 1

1) Petechiae: Non-palpable, non-blanching
2) Purpura: Palpable bleed
- Non palpable purpura - ITP
- Pinch purpura - Amyloidosis
- Non-Thrombocytopenic purpura - HSP (IgA Mediated vasculitis
3) Joint space bleeding: S.I Hemophilia A (F8),B (F9),C (F11)

Question 2

Causes of Acute ITP

Answer 2

• Adults: SLE, Acute Leukemia, Myelodysplastiic Sndrome

- Children: Immune Mediated (EBV,CMV, Rubella)

Question 3

Clinical features of Acute ITP

Answer 3

1) Epistaxis (recurrent)
2) Menorrhagia
3) Intracranial hemorrhage (headache, altered sensorium,
irritability, babinsky sign)
4) Petechiae (@ Ankles, subconjunctiva, BP cuff, Suction cup of ECG)
5) Purpura

• Spleen NOT enlarged

Question 4

Workup of Acute ITP

Answer 4

1) Peripheral smear: DECreased platelets

2) BMA: Hypercellular BM (Megakarocytic Hyperplasia — INCreased platelet count)

Question 5

Management of acute ITP

Answer 5

• IV Steroids
• If disease is still progressing:
  i) if px. Rh (+ve) - Rh immunoglobulin
  ii) if px. Rh (-ve) - IV Ig (OVERALL BEST)
• Elective splenectomy (done in chronic ITP and hered. sphero.)
• No role of platelet transfusion
• Drugs: Romiplastin - Acute/Chronic ITP
  Eltrombopag - Chronic ITP
  * These are platelet enhancing drugs (Increases platelet count)

Question 6

Cause of Hemophilia A

Answer 6

Factor 8 Deficiency

Question 7

True/False: Hemophilia A is an X-Linked recessive disorder and affects both male and female.

Answer 7

FALSE!!!

Hem A is an X-linked recessive trait. So affects only MALES. Females are CARRIERS ONLY.

Question 8

Earliest presentation of Hemophilia A

Answer 8

Excessive Circumcsion bleeed

Question 9

Clinical features of Hemophilia A

Answer 9

1) Excessive circumcision bleed (earliest)
2) B/L Hemarthrosis (~1yr. of age)
3) Easy bruisability
4) Intracranial Hemorrhage

Question 10

Screening of px. with hemophilia A

Answer 10

1) Coagulogram: Increased aPTT

Question 11

IOC of hemophilia A

Answer 11

Factor 8 levels DECreased (around 1% of normal)

Question 12

Management of Hemophilia A

Answer 12

• Factor 8 IV Concentrates (DNA Recombinant Technology)
• If w/ mucosal bleeding: DDVAP (Desmopressin)
• If w/ life threatening bleed: Fresh Frozen Plasma (richest
  source of clotting factors)

Question 13

Normal coagulogram levels

Answer 13

• Bleeding Time: 2-9 minutes
• Prothrombin time: 11-16 seconds
• Activated Partial Thromboplastin Time: 30-45 seconds

Question 14

Richest source of clotting factors for transfusion

Answer 14

Fresh Frozen Plasma

Question 15

Hemophilia A vs BATTERED BABY SYNDROME

Answer 15

BATTERED BABY SYNDROME

 - Asymmetrical injuries
 - Bruises (of different color — cuz some old, some new)
 - X-Ray: Fractures, healing fractures
 - Fundus: Retinal bleeds

Question 16

Other name for Bernard Soulier Syndrome

Answer 16

1b receptor defect

Question 17

Inheritance pattern and gender distribution of Bernard Soulier Syndrome

Answer 17

• Autosomal Recessive

- M=F

Question 18

Clinical features of Bernard Soulier Syndrome

Answer 18

• Recurrent epistaxis
• Menorrhagia
• Easy bruisability
• Post-op bleeding

Question 19

Work up done for Bernard Soulier Syndrome

Answer 19

1) Blood count: TLC INCreased (False elevation as giant
platelets, WBCs and RBCs may be confusing)
2) Peripheral smear - GIANT PLATELETS
3) Platelet count: Normal
4) Coagulogram: i) BT INCreased
ii) PT Normal
iii) aPTT Normal
5) Platelet Function Analyzer (PFA) 100
6) Ristocein aggregation test NEGATIVE (as platelets fail to aggregate)
* Platelets aggregate with ADP, Adenosine, Collagen but not
with ristocein

Question 20

Management of Bernard Soulier Syndrome

Answer 20

• No definitive tx.
• Post-op beleeding can be managed by Platelet
  Transfusion

Question 21

Inheritance pattern and gender distribution in Wiskott-Aldrich Sndrome

Answer 21

• X Linked Recessive

- Males only affected

Question 22

Characteristics of Wiskott-Aldrich sndrome

Answer 22

“WAITER”

W: Wiskott-
A: Aldrich
I: Immunodeficiency (IgM def. but INCreased IgA and IgE)
T: Thrombocytopenia (Bleeding, P. Smear - Small platelets) (U.L Bernard
Soulier Syndrome)
E: Eczema (U.L Bernard Soulier Syndrome)
R: Recurrent pyogenic infections d/t Decreased IgM (U.L Bernard Soulier
Syndrome)

Question 23

Other name for Glanzmann Thrombosthenia

Answer 23

Alpha 2b/Beta 3 receptor defect

Question 24

What is Glanzmann Thrombasthenia?

Answer 24

Px. w/ this disorder has problems w/ binding of platelets to fibrinogen)

Question 25

Glanzmann Thrombasthenia vs Bernard Soulier Syndrome on Ristocein receptor test

Answer 25

GT: Platelets aggregate with Ristocein but doesn’t
aggregate w/ ADP, Adenosine and Collagen
BSS: Platelets doesn’t aggregate with Ristocein but
aggregates w/ ADP, Adenosine and Collagen

Question 26

Ristocein aggregation test is used to test what receptor?

Answer 26

• Ristocein aggregation test tests for 1b receptor.

- It’s POSITIVE in Bernard Soulier Syndrome, which has def. of 1b receptor.