CCS Interactive Case 16

Question 1

5 y/o M presents to office because of continued oozing 2 days after a tooth extraction. Boy is well-developed, HDS. No known medical problems. Uncle w/hemophilia.

DDx?

Answer 1

Family hx of hemophilia on mother’s side should raise suspicion for hemophilia (X-linked disease)

Disorders of primary hemostasis (vasculitis, thrombocytopenia, qualitative platelet disorders) and secondary hemostasis (clotting factor deficiencies)

Question 2

Physical exam - complete reveals oozing at the site of tooth extraction, otherwise normal

Next step?

Answer 2

CBC, BMP, PT, PTT, bleeding timem, LFTs

Question 3

PTT elevated at 50 seconds. All other labs WNL.

DDx?

Answer 3

Prolonged PTT with normal PT may be due to hereditary or acquired coniditons involving the intrinsic coagulation pathway.

Inherited causes include deficiency of factor VIII (hemophilia A), factor IX (hemophilia B), factor XI, and von Willebrand’s disease. Acquired causes include antiphospholipid syndrome and heparin use

Question 4

Further diagnostic evaluation?

Answer 4

Factors VIII, IX, and XI levels

Question 5

Factor VIII level 3% of normal

Dx and next step?

Answer 5

Dx hemophilia A
Initiate treatment
Genetics consultation
Counseling

Question 6

Rx?

Answer 6

Purified monoclonal recombinant factor VIII (Hem A) or IX (Hem B); desmopressin and antifibrinolytic agents may be used to improve coagulation
Avoid aspirin and contact sports

Question 7

Sequence

Answer 7

Exam: complete
Order (stat): CBC, bleeding time, PT, PTT, BMP, LFTs
Advance clock to obtain results of PTT and PT. Note prolonged PTT and normal PT.
Transfer to ward or ER
Order: factor VIII, IX, XI
Advance clock to obtain results of factor assays - low factor VIII level confirms Hemophilia A
Order: Factor VIII therapy
Advance clock by 20 minutes
Interval f/u and HEENT exam (bleeding stopped)
Order PTT, stat; Factor VIII
Advance to obtain results - PTT is decreased, factor VIII level has increased
Reevaluate every 1-2 hours and monitor PTT and/or factor VIII until they are WNL
Consult, genetics, routine
No aspirin
Counseling
Change location to home
F/u appt in 1 week
Case ends
No final orders
Dx Hemophilia A