Presentation on theme: "1 Coagulation : Case based approach 2 nd Basic hematopathology course, TMH, Mumbai Saturday, 11 th June 2011 Dr. M.B. Agarwal, MD, MNAMS Head, Dept of."— Presentation transcript:
1 Coagulation : Case based approach 2 nd Basic hematopathology course, TMH, Mumbai Saturday, 11 th June 2011 Dr. M.B. Agarwal, MD, MNAMS Head, Dept of Haematology, Bombay Hospital Inst of Med Sc, Mumbai
2 Bleeding disorders
3 Case 1
4 Jigar, 15-year old boy from Vadodara with post-traumatic nasal & oral bleeding : 2 hours No family h/o bleeding disorder
5 Jigar : Lab. investigations TestsResultsControl Hb13.3 g/dl Haematocrit41.4 % WBC7900/cmm Platelets368,000/cmm PT11 s PTT46 s28 s
6 Differential diagnosis
7 Factor deficiency or Inhibitors
8 TestResultControl PTT46 s28 s PTT mix (1:1)30 s What does this mean ?
9 Factor deficiency
10 TestResultControl PTT46 s28 s PTT mix (1:1)43 s What does this mean ? ( = 74 ÷ 2 = 37)
14 Intrinsic pathway defect Factor VIII deficiency including von Willebrand Disease Factor IX deficiency Factor XI deficiency (rare) Factor XII deficiency (non-bleeder)
15 TestResultNormal Factor VIII : C9 % % Factor IX77 % % What does this mean ?
16 Classical haemophilia A or von Willebrand Disease
17 vWD has equal prevalence in both sexes (Autosomal)
18 Coming back to Jigar Bleeding from nose Raised PTT Good correction on mixing studies Low factor VIII : C
19 Jigar : Further work up TestResultNormal VIII : C9%50-150% vWF : Ag12 % % vWF : RCoF10 % %
20 Jigar : Final diagnosis
21 Von Willebrand Disease
22 vWD : Primary classification SubtypesvWF Type 1Partial deficiency (AD) Type 2Qualitative defect (AD) Type 3Total deficiency (AR)
23 vWD type 2 : sub classification SubtypesCharacteristicsDD 2A* High mol wt vWF multimers absent vWD : Type 1 & Type 2M 2B* Low and High mol wt vWF ↓ ↑ RIPA Thrombocytopenia 2M* High mol wt vWF multimers normal ↓ vWF : CB vWD : Type 2A 2N**Markedly ↓ affinity for factor VIIIHaemophilia *vWF : Ag > vWF : Rco, **AR
24 vWD : Laboratory tests CBC, platelet count, PT : Normal PTT : often normal Factor VIII (coagulometer) vWF : RCoF (aggregometry) vWF : CB (ELISA) vWF : Ag (ELISA) RIPA : Aggregometry vWF : Multimer analysis (gel electrophoresis)
25 Variations in vWF levels ( ) Exercise and stress (adrenaline) Infection and inflammation Liver disease Pregnancy Estrogen and progesterone therapy Hyperthyroidism
26 Genetic variations in vWF levels Blood group O has lowest level Black race has higher level Black with non A may have double the level of a Caucasian with group O Degree of proteolysis varies ADAMTS-13 activity varies
27 Platelet-type vWD It is not vWD A genetic platelet disorder (AD) A gain-of-function mutation affinity of platelet GP1b for vWF RIPA Thrombocytopenia Phenotype : similar to type 2B Treatment : platelet transfusion and not vWF
28 Acquired vWD Not an uncommon disease Pts with autoimmune disorders, hypothyroidism, lymphoma, WM Antibodies are present only in a minority Excessive proteolysis or consumption (AS)
29 Associations Angiodysplastic lesions in gut Atherosclerosis (pigs) Diagnosis may be totally missed during pregnancy and early puerperium Factor VIII level may vary within the family Role of PFA-100
31 Case 2
32 Case study Mr. Raj, 69y from Rajkot SC hematomas & easy bruising : 2 mths Platelet count : 3,32,000/cmm PT : 43/12 secs, INR 3.7 PTT : 56/30 secs
33 What is the differential diagnosis ?
34 Whenever PT & PTT both are raised ……?
35 First, we must exclude difficult collection (partially clotted blood)
36 We must also exclude effect of high haematocrit (polycythemia)
37 Common pathway defect Vitamin K deficiency Chronic liver disease Consumptive coagulopathy Anticoagulant therapy
38 Liver function : normal DIC profile : normal
40 Factor I : 290 mg/dl Factor II : 87% Factor V : 78% Factor X : 1.2%
41 What is the aetiology of selective factor X deficiency at the age of 69 years ?
44 Raj : Amyloidosis Macroglossia S. Protein electrophoresis : Faint M band present S. Immunofixation : Lambda monoclonal gammopathy Bone marrow : Plasma cells : 2-3% Bone marrow biopsy : Amyloidosis Abdominal fat pad biopsy : Amyloidosis
45 Part 3 Pictorial quiz
49 What is this ?
53 Blue toe syndrome
57 XVIIIth National CME in Haematology & Haemato-oncology on 26 th - 29 th of January 2012 (Thurs - Sun) at Bombay Hospital Inst of Med Sc, Mumbai ( Subsidised registration to participants submitting registration form today)