2 year old boy had a fall from chair. He developed swelling of right shoulder and upper arm.

On examination at a hospital the boy had a hematoma of the right shoulder.

There was no previous h/o surgeries, trauma or medication.

Following aspiration of hematoma the patient developed profuse bleeding.

His mother said that the boy’s cousin had a similar bleeding problem.

Investigations : Hb- 8 gms Hematocrit- 26% Platelets- 2 lakhs. Bleeding time- normal Coagulation profile: PT- 12 sec aPTT- 60 sec Thrombin time- normal

1.Does the lab data support a diagnosis of bleeding disorder?

2.The tests done shows what type of disorder?

3.What confirmatory test should be done ?

Answers:1. it’s a coagulation defect.2. normal platelets, bleeding time. APTT prolonged, with normal PT, THROMBIN

TIME. indicate a intrinsic pathway defect with normal common pathway.

There is a defect in factor VIII, IX, XI, XII.3.Specific factor assay, factor substitution

testing.If factor 8 activity < 1% Diagnosis- hemophilia A

21 yr man was admitted for hernia surgery. No h/o of any medical illness, bleeding , or drug intake. Family history ?

Investigations: Hb-15 gms Hematocrit-44% platelet count –normal bleeding time-10 mins PT- NORMAL APTT- 55 seconds Repeat APTT was also prolonged. Surgery was postponed for him.

1.What coagulation disorder likely to be present?

2.what are the other investigations required?

3.what is the diagnosis if the patient has low normal factor 8 levels and defective ristosetin induced platelet aggregation?

1.Normal PT, prolonged APTT suggest a deficiency of VIII, IX, XI, XII deficiency.

Since deficiency of XI, XII are rare, this can be due to def of VIII, or XI.

2. factor substitution study.Specific factor assay.3. in this factor VIII assay showed 30% activity (n-

50-150%). This finding and lack of bleeding history show he may not have classic factor viii deficiency.

Further tests showed

Bleeding time prolonged. Platelets aggregation decreased. Factor VIII/ VWF decreased. the lab findings support a diagnosis of

von willebrand disease

62 year old with abnormal bleeding was admitted for dental surgery. His brother had died of traumatic bleeding following a car accident.

I- AT 7 YEARS following a lymph node resection. II- at 30 years the pt had 3 weeks of bleeding

following dental extraction. At 31 years the pt received blood transfusion

before appendicectomy. At 59 years the pt developed gi bleeding

following surgery for hiatus hernia. He received blood transfusions -4 units.

Lab data: Hb-7 gms Hematocrit-23% Platelet count- 4.98 lakhs Bleeding time-2mins Clotting time-188 mins. APTT- 53 sec( control- 35 sec) PT- 13.8 SEC( control-13 sec). Specific assay for factor VIII, IX Showed

factor IX level less than 5%

1.what is the diagnosis? 2. can the patient safely undergo surgery?

1. hemophilia –B2.yes.He should receive factor IX concentrate

rather than whole blood/.

22 year female was being evaluated for menorrhagia. Her menses lasted for 8-12 days. The patient also had several nose bleeds which needed cautery. She also reported that her mother and 2 sisters also had long menstrual periods, and her brother needed transfusion following an appendicectomy.

On examination the patient was pale and had large bruises in the extremities.

Lab data: Hb-10 gms Hematocrit-27% platelet count – 2.5 lakh/cumm. Bleeding time-7 mins( n- 1to 3 mins) PT- 11 SEC (control-12 sec) APTT- 29 sec( control-34 sec)

1.What is the likely abnormality?2.What are the further tests required? 3. what is the most likely diagnosis if the

patient has defective platelet aggregation?

1.Thrombasthenia 2. Platelet function studies 3. the patient had deficient platelet

aggregation. A diagnosis of Glanzmann’s thrombasthenia was made.

Autosmal recessive disorder. Platelet concentrate is needed during

surgeries.

A woman was admitted in labour in an obstetric ward. Pt had no significant history and examination was normal. The patient had irregular contractions.

In the delivery room she developed profuse bleeding.

Hb-10 gms Hematocrit-27% Platelet count -75000 Bleeding time-10 mins PT-19 SECONDS- ( control-13 sec). APTT- 65 sec( control-35 sec) Thrombin time-30 sec( n- 18-22 sec) Fibrinogen- 90 mg/dl (200-400 mg/dl) Fibrin split product- positive

1. what is the probable diagnosis?2. what is the probable etiology?3. will whole blood transfusion repress the

bleeding?

1. the diagnosis is DIC.2. may be due to release of placental tissue

in to maternal circulation triggering the coagulation mechanism. There is evidence of fibrinolysis.

3. transfusions may temporarily help. Heparin may be useful