Upshaw-Schulman syndrome | Figure 1

ahmedhakim

Internal Medicine

Upshaw-Schulman syndrome

Patient: 28-year-old female, married, nulligravida
Setting: Preconception counseling visit
Referral Reason: History of TTP in her last pregnancy 9 months ago with family history of thrombotic thrombocytopenic purpura (TTP) in multiple siblings; seeking risk assessment and pregnancy planning guidance.

Given the strong family history, female clustering, and pregnancy-specific onset, there is a high clinical suspicion of congenital TTP (Upshaw-Schulman syndrome), an autosomal recessive deficiency of ADAMTS13.

She was sent for ADAMTS 13 it was borderline 52% (reference > 61)

Positive pathogenic variant gene
platelet count, RFT, LDH, Peripheral blood smear were all normal

Question here : does she need FFP prior to conception ?

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