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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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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.