- A 20-year-old female presented with a history of gum bleeding since childhood, heavy menstrual bleeding for 7 years, and epistaxis. Examination found pallor but no other abnormalities. - Testing showed low platelets, anisocytosis, and giant platelets. Von Willebrand antigen and activity were normal. - She was diagnosed with Glanzmann's thrombasthenia, a rare bleeding disorder characterized by a lack of platelet aggregation due to a receptor defect. Management focuses on supportive care and transfusions to prevent bleeding.

2. Case Presentation
Dr.M.Hasnain Raza/ Dr.Mehreen
WMW
KEMU/MHL

3. Bio Data
Razia Bibi, 20-years-old, unmarried, female,
unemployed; resident of Toba Tek Singh
admitted via OPD on 04-01-17 with presenting
complaints:
Work up for gum bleeding since
childhood
Heavy PV bleeding …7 years

4. History Of Presenting Illness
• My patient normoglycemic, normotensive has
history of gum bleeding since 5 months of age.
Bleeding has been mild, spontaneous, persistent
with staining of teeth, not associated with any
known orodental disease. During the same
period, she also started to have recurrent
epistaxis which was spontaneous, intermittent,
not associated with finger nail trauma or
seasonal variation.

5. • Since the onset of menarche 7 years back,
patient have had heavy menstrual blood flow
with bleeding lasting through out the month and
associated with passage of blood clots.
• These complaints have been fairly persistent
since childhood and temporarily relieved by
medications.

6. • There is no history of petechae, bruising
hemarthrosis or hematoma formation.
• No history of hematemesis/malena, hemoptysis,
bleeding per rectum or hematuria.
• No history of hakeem medication or illicit
sustance use.

7. Systemic Inquiry
• No history of fever, joint pains, oral ulcers,
arthralgias, photophobia or alopecia.
• No history of cough, fever or expectoration.
• History of exertional dyspnea but no
complaints of chest pain, PND or orthopnea.
• No history of decreased urine, burning
micturition or loin pain.

8. Past History
• Patient was found to be Anti HCV+ two years
back.
• No history of prior hospital admission but
multiple OPD visits to various physicians but
remained undiagnosed.
• History Of repeated blood transfusions since
childhood.

9. Treatment History
• Patient had been prescribed multivitamins,
Iberet folic, Cap.Transamine, DDAVP,
Tab.Cecon plus on different occasions.
• No known history of drug allergies

10. Gynaecological & Menstrual History
• History of polymenorrhagea.
Family History:
• Patient has three sisters.
• All siblings are healthy and well.
• No history of any chronic illness in family.

11. Personal and Social History
Patient belongs to lower socioeconomic class.
 Patient is non smoker, non alcohlic with no
history of hakeem or non prescription
medications.
Dietery Habits normal

12. Case Summary
• A young unmarried female, found to be AntiHCV
+ 2 year back, was admitted for work up of gum
bleeding and epistaxis since childhood and
menorhagea for last 7 years. These complaints
have been persistent with temporary relief by
prescribed medications. No significant systemic
complaints.
• No history of hemarthrosis, hematomas,
hematuria, hemoptysis.

13. Differential Diagnosis
 Platelet Disorder
A) Thrombocytopenia
1. Impaired Production…Bone Marrow Disorder
2. Autoimmune Destruction…ITP,Evans Syndrome
3. Sequestration
B) Qualitative Platelet Defects
i. VWD
ii. Scurvy
iii. DCLD?

14. General Physical Examination
A young female of average built and height,
sitting comfortably in bed. Well oriented in time,
space and person, intermittent spitting with
blood stained saliva, teeth blood stained.
Pulse: 102 beats/min; B.P: 126/80;
Temp. 98.6F;
 R.R 16/min
• Pallor Present
• Jaundice -ve
• Petechae, bruises, echymyosis…. -ve

15. • Palmar Erythema -ve
• Clubbing -ve
• Koilonychia -ve
• Hand and joint deformity ….absent

16. • Axillary and cervical lymphadenopathy.. Absent
• Skin rash……………………….. Absent
• Thyroid not enlarged, Eyes..Normal
• Ankle edema…………………….. absent

17. GIT Examination
Inspection: Normal
Palpation: soft, non tender abdomen with no
visceromegaly.
Percussion: Normal
Auscultation: bowel sounds normal

18. Respiratory Examination
oNormal vesicular breathing with no added
sounds.
CVS Examination
oApex Beat not displaced
o S1+S2+0

19. CNS Examination
• HMF intact
• Cranial nerves intact
• Motor, Sensory, Cerebellar
Examination……..Normal

20. Case Summary
• A young unmarried female, found to be AntiHCV
+ 2 year back, was admitted for work up of gum
bleeding and epistaxis since childhood and
menorhagea for last 7 years. These complaints
have been persistent with temporary relief by
prescribed medications. No significant systemic
complaints.
• No history of hemarthrosis, hematomas,
hematuria, hemoptysis.

21. • On examination, she has pallor but no stigmata
of DCLD, lymphadenopathy or palpable
visceromegaly.

22. Differential Diagnosis
 Platelet Disorder
A) Increased Destruction…ITP
B)Decreased production
c) Impaired Function
 VWD

23. Investigations
Hb 5.0 g/dl
WBC 4.2
Platelet 239 × 10 ^/l
HCT 18.3
MCV 71.2
MCHC 19.5
Microcytosis, hypochromia
+++
Macrocytosis +
Anisocytosis, poikilocytos +
Platelet Anisocytosis seen
Few Giant platelet seen

25. Von Willebrand Antigen
(vwf:Ag) ….133 (normal 50
to 200)

26. Ristocetin Co Factor
Activity …98 ( Normal
50 to 200)

27. • LFT’s …. Normal
• RFT’s ……..Normal

28. CXR(PA)
Normal
USG Abdomen:
Normal

30. Final Diagnosis:
Glanzmann’s Thrombasthenia

31. Bleeding Disorders
• Primary Hemostasis:
 Vascular Constriction
 VWF
 Platelets

35. Primary Hemostasis
• Platelet Disorders
• 1.Quantitative (ITP, Evans Syndrome)
• 2.Qualitative (Receptor Defects)
Bernard Soulier(GP ІB/ІX)
Glanzman Thrombasthenia (GP ΠB/шA)
• 3.Qualitative (Secretion/Storage Pool defects)
• 4.VWD
• 5.Afibrinogenemia

36. Secondary Hemostasis
• Delayed and Deep seated Bleeds
• Classical is Hemophilia (A and B)
• Hemophilic Arthropathy..Joint Destruction
• Hematomas …Compartment Syndrome
• Hemophic Aura
• Life Threatening Bleeds

37. Diagnostic Work up
• History
Pattern
Past bleeding,
Family History,
Bleeding with surgery or trauma,
 medication use

38. Labs: Primary Hemostasis
• CBC (Platelet Count)
• LFT’s and RFT’s
• Evaluation of Platelet function
• PFA 100 (Has replaced BT)
• Platelet Aggregation
• VWD:
• VWD Antigen
• Ristocetin Co factor activity, Platelet
aggregation,VWF multimers

41. Labs:Secondary Hemostasis
Tests Of Coagulation
• PT/INR
• APTT
• Thrombin Time
• Clot Stability Test for Factor 13.
• Mixing Study for Circulating anticoagulant

43. Management
• Do NO HARM
Aspirin
I/M Injections
• Pay Attention to Hemophilic Aura and have low
threshold for replacement
• Replace Deficient Hemostatic Component
(Platelets,FFP, Individual Factor Concentrates)
• Treat Reversible Cause..Drugs, Vit K Def,
Autoimmune, DIC)

44. Adjunct Therapies
• DDAVP:
• Mild Hemophilia, VWD
• May Cause water retention, hyponatremia.
• Use OD due to tachyphylaxis
• Antifibrinolytics to maintain clots:
• Used in Dental extractions, mouth bleeding
• Possible use in epistaxis
• C/I: Gross Hematuria

45. Glanzman Thrombosthenia
• Rare autosomal recessive bleeding syndrome
• characterized by lack of platelet aggregation
• Clinical variability
• In most cases, bleeding symptoms manifest
rapidly after birth
• Prognosis is good with supportive care

46. Management:
• In order to avoid platelet alloimmunisation,
therapeutic management must include, if
possible, local hemostatic procedures and/or
DDAVP.
• Transfusion of HLA-compatible platelet
concentrates may be necessary if these measures
are ineffective, or to prevent bleeding during
surgery.
• Administration of recombinant factor VIIa is an
increasingly used therapeutic alternative.