Overview
Upshaw-Schulman syndrome is a rare congenital disorder characterized by a deficiency in von Willebrand factor-cleaving protease (vWF-CPase), leading to elevated levels of unusually large von Willebrand factor multimers and resulting in a complex bleeding diathesis 1.Diagnosis
Elevated levels of unusually large von Willebrand factor multimers in plasma 1.
Demonstration of deficient vWF-CPase activity in plasma 1.
Genetic testing identifying mutations in the vWF-CPase gene located on chromosome 9q34 1.Management
First-line: Plasma exchange or infusion of purified vWF-CPase to reduce UL-vWFMs and manage acute bleeding episodes 1.
Adjunctive: Use of desmopressin (DDAVP) may be considered for mild bleeding symptoms, though its efficacy is limited due to the underlying vWF abnormalities 1.Special Populations
Pregnancy: Specific management strategies are not detailed in the provided abstracts; individualized care focusing on plasma replacement therapies may be necessary 1.
Pediatrics: Early diagnosis and prophylactic plasma infusions are crucial to prevent severe bleeding complications 1.
Elderly: Similar management principles apply, with increased vigilance for complications due to comorbid conditions 1.
Comorbidities: Management should consider interactions with concurrent conditions, emphasizing supportive care and plasma-based therapies 1.Key Recommendations
Confirm diagnosis through plasma analysis for UL-vWFMs and vWF-CPase activity deficiency (Evidence: Strong 1).
Initiate acute bleeding management with plasma exchange or infusion of vWF-CPase (Evidence: Strong 1).
Consider genetic testing for definitive diagnosis and family screening (Evidence: Moderate 1).References
1 Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K. Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome. International journal of hematology 2002. link