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• A 10-month-old Hispanic male infant presented to the ER in 1/2002 with marked left thigh swelling, pain and bruising. The week before he had been treated for a recent illness with an IM antibiotic injection in the same thigh. Upon further workup was found to have a large intramuscular left thigh bleed. The child had not been circumcised or had any previous surgeries. The family denies any bleeding disorders on the paternal or maternal side of the family. But the mother does note that the child has had easy bruising since he was about 3 months of age, and she has noticed bruising around his knees since he began to crawl.
•Initial laboratory data:
• WBC: 7.1 Platelet: 126,000
• Hgb: 8.7 Hct: 22.4
• PT: 14.5 ( 11.6-14.6)
• PTT: 110 ( 24.0-38.0)
• The PTT corrected with mixing with normal plasma. Look for factor deficiency
•What is your differential diagnosis in regards to the bleeding disorder? Hemophilia A or B.
•What additional studies would you order?
•With a negative family history, could this be hemophilia?
Yes; spontaneous mutations can occur for hemophilia (about a third of them).
Ask if the baby is adopted.
•If this is hemophilia A, based on the patient's history, what would you estimate the deficient factor level to be?
VIII is low
Severe is <1%
This patient would fall under moderate. There was a provoking event (injection). Not spontaneous. Not a major provocation (like surgery or trauma).
Treat? Factor VIII concentrate. Transfuse if the patient is symptomatic (but not usually at this point). If continued bleeding than transfusion would be warranted. Put him in the hospital overnight to stabilize and give factor then follow up with pediatrician once a week for a few weeks after that.
After this situation--need to establish where he falls on the spectrum to determine if he needs prophylaxis
•A 21-year-old woman presented to the clinic in April 2001 with continued complaints of severe menorrhagia. She has had severe menstrual periods for some time that led to her becoming anemic and iron deficient. She awakens at night to change pads at least 3 times with each menstrual period. She has not had any dental procedures or significant surgeries to demonstrate a coagulopathy. She denies any easy bruising or frequent nose bleeds. She had no other significant medical history to note.
Initial laboratory data:
• WBC: 4.3 (3.5- 6.5) Hgb: 12.6 gm/dL (12-14)
• Platelets: 300,000 (150-450,000) Hct: 37.8% (36-42)
• MCV: 81
• PT: 14 seconds (11-14 seconds) INR: 1.1 ( 0.8-1.2)
• PTT: 33 seconds (24-37 seconds)
• Fibrinogen: 240 mg/dL ( 200-400)
• Bleeding time: 8 minutes--Normal is up to 8 minutes
•What information does this data provide? What bleeding disorders does it help exclude?
Exclude coagulation factor problems.
Ask about family history of menorrhagia. Would be normal if that was the case
VWD is possible--bleeding time is high---qualitative problem with the platelets.
Order: vWF assay and ristocetin cofactor assay
Additional lab data is given.
Von Willebrand's factor assay 14 ( 50-150)
Ristocetin cofactor assay less than 6% activity ( 50-150)
Patient has vWF. Order multimeric analysis to determine the type of VWD she has. The treatment depends on the type. Generally treat with DDAVP--esp. fairly minimal bleeding. Don't use DDAVP not for severe bleed.
Can't use DDAVP in 2B. If significant bleed in type 2B--use cryo in emergency. In surgery--should have prepared ahead. Can use concentrates with vWF.
•What is a possible treatment for this disease?
•A 17-year old white female presents with a two-week history of left lower leg pain that was not helped by NSAIDs. Four days ago she developed increased pain and swelling in the left lower extremity that was more acute in the left groin. She denied any other significant medical history or previous surgeries. She did not know of any significant family history of clotting or bleeding disorders. The only medications she had taken was the NSAIDs, but she also notes she had recently begun taking oral contraceptives. She presented to the ER and a Doppler sonogram of her left leg revealed a DVT and she was started on oral anticoagulation therapy.
•How common is a DVT from someone as young as this patient?
Uncommon. However, this is not unprovoked. Contraceptives are a predisposing factor to thrombosis. Everybody who starts on oral contraceptives at age 17 are not generally at risk. So there was probably an underlying event.
•What are her risk factors for thrombosis?
Hypercoagulable state: She possibly has factor V leiden.
Do antiphospholipid panel. Could be AT III deficiency--extremely rare and generally presents with more catastrophic clot in unusual location.
If she is hypercoagulable--no more oral contraceptives.
•Initial laboratory evaluation indicated normal assays for Antithrombin III, protein C, and protein S.
•Should this patient be further evaluated for other inherited disorders? If so, what tests?
There are two other inherited factors: factor V leiden and prothrombin mutation. Haven't done antiphospholipid antibody test either
•What is the most common inherited thrombotic disorder?
•Final laboratory results confirm the patient's diagnosis
•The patient was found to be heterozygous for the Factor V Leiden mutation AND heterozygous for the prothrombin mutation.
•The patient wishes to continue taking oral contraceptives. What are your recommendations?
She is at risk her whole life for thrombosis. Life long. Can't keep taking oral contraceptives!
If she had too--could keep her maximally anticoagulated while she was on them. It's best not to tho.
•A 23-year-old male presented with an increase in the number of nosebleeds over the previous week. He had also noted that he was bruising very easily. While he admitted feeling a little fatigued, he denied fevers, night sweats, or weight loss. He had no other complaints. He had no significant past medical, surgical or family history. Physical exam was unremarkable. The spleen was not palpable. The patient denied any current medications.
•Initial Laboratory data:
• WBC: 5000 Platelets: 2000
• Hgb: 15 gm/dL Hct: 33 %
• MCV: 88 RDW: 13
•Why would it be critical to review the peripheral smear in this case? pseudothrombocytopenia
•Review of peripheral smear confirms the above laboratory results
Could do a BM smear. Looking to see if there are adequate megakaryocytes.
BM: shows tons of megakaryocytes.
Thinking: platelets are being consumed. Consumed in the spleen. Causes us to consume: antibodies to the platelets. DIC unlikely.
Antibody assay: can be done but is not that helpful. These won't confirm or rule out an ITP diagnosis.
•A bone marrow biopsy is performed. The marrow cellularity is increased. Numerous megakaryocytes are present with focal clustering. There is no evidence of dysplasia in any cell lines. How does this help your differential?
•How would you approach the work-up of thrombocytopenia ????
No schistocytes so no TTP or DIC
Lupus: not ruled out, but this is a male. Possible in female
Do you treat--if he has nosebleeds and bruising but is otherwise asymptomatic.
Should get the platelets up with treatment. Don't wait to see if it spontaneously resolve. Children with ITP do it in response to children, but this isn't a child. Adults rarely resolve spontaneously. Primary treatment is steroids in ITP. Steroids are immunosuppressive--prevent antibody production. Use high dose steroids. Probably will stay in remission--resistant ITPs have other treatments. If don't work then is chronic ITP. Relapsing ITP also exists.
Flow: Thrombocytopenia detected by automated blood counter -> confirm by slide evaluation -> is there an obvious reason for thrombocytopenia (recent chemo, radiotherapy, splenomegaly, hemodilution) -> Yes (no futher testing) or no -> perform bone marrow exam. Megakaryocytes -> decreased (examine marrow for infiltrative disease, aplasia, etc) or normal/increase -> other marrow elements? -> normal (peripheral platelet destruction--exclude DIC, TTP, drugs, SLE-->ITP) or abnormal (evaluate for primary hematologic disease)
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