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A very rare syndrome characterized by congenital microangiopathic hemolytic anemia, thrombotic thrombocytopenic purpura, and response to fresh plasma infusion. Neonatal onset and frequent relapses are typical.

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Congenital Microangiopathic Hemolytic Anemia; Schulman-Upshaw Syndrome; Deficiency of Upshaw Factor; Familial Thrombotic Thrombocytopenic Purpura.

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First described by Jefferson D. Upshaw, an American hematologist, in 1978.

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Autosomal recessive.

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Phenotype may be identical to thrombotic thrombocytopenic purpura, which is caused by mutations in the ADAMTS13 gene located on 9q34. Thrombocythemia is caused by a combination of the presence of plasma factor VIII and von Willebrand factor (UL-VWFMs), platelets, and high shear stress generated in the microcirculation. Prostacyclin (PGI2) may be partly involved.

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Based on congenital Upshaw factor deficiency, distorted and fragmented circulating red cells, and cold insoluble globulin (fibronectin) deficiency.

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Characterized by frequent episodes of severe thrombocytopenia and severe anemia (microangiopathic hemolytic anemia). It is often in association with a clinically detectable infection or a precipitating stress. A dramatic response to the administration of whole blood or plasma alone. Corticosteroids or splenectomy has no effect. When asymptomatic, patient has a compensated hemolytic state with variable reticulocytosis and low-normal hematocrit levels. Often associated with radioulnar hypoplasia and lobster-claw deformity. Petechial rash may be present with episodic fever and glomerulopathy. Preeclampsia is frequent. Treatment is definitely the administration of plasma and platelet transfusion.

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A complete cell blood count (especially hemoglobin and platelet count) must be obtained before and after surgery. One must ensure that fresh-frozen plasma is available if blood transfusion is anticipated. Check renal function (glomerulopathy with hematuria and proteinuria is not uncommon).

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Because of the low platelet count, regional anesthesia, particularly perimedullar blockade, should be avoided, as should nasogastric tubes and nasal intubation.

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Salicylates are best avoided considering the risk of defective platelets or thrombocytopenia.

Konno M, Yoshioka A, Takase T, et al: Partial clinical improvement in Upshaw-Schulman syndrome following prostacyclin infusion. Acta Paediatr Jpn 37(1):97, 1995.
Upshaw JD: Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med 298:1350, 1978.  [PubMed: 651994]
Yagi H, Konno M, Kinoshita S, et al: Plasma of patients with Upshaw-Schulman syndrome, a congenital deficiency of von Willebrand factor-cleaving protease activity, enhances the aggregation of normal platelets under high shear stress. Br J Haematol 115(4):991, 2001.

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