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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.

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

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

Autosomal recessive.

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.

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

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.

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).

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

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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