Fragoso-Flores J, Galo-Hoker E, Ruiz-Delgado GJ, Ruiz-Argüelles GJ

Language: English
References: 22
Page: 91-95
PDF size: 321.81 Kb.

ABSTRACT

Thrombocytopenic thrombotic purpura (TTP) is caused by the absence or inhibition of a protease (ADAMTS-13) that cleaves the von Willebrand factor (vWf) multimers, synthesized by the endothelial cells. In 1960 was described, for the first time, a congenital deficiency of this protease and named Upshaw-Schulman syndrome. The presence of antibodies against the protease is noted in acquired forms of TTP and hemolytic uremic syndrome (HUS); the latter is due to a gastrointestinal infection of Escherichia coli O157:H7. Until today, it has been described more than 100 cases of Upshaw-Schulman syndrome, and around 87 different mutations of the encoding gene. None of these cases comes from Mexican or Latin American literature.
Case description: 10 year old female, only child, with intermittent episodes of refractory thrombocytopenia for the last five years. Besides the thrombocytopenia, she also presented a significant increase in lactic dehydrogenase levels (LDH), hematuria, abdominal pain and fever. In order to control the platelet consumption, splenectomy was considered, along with the suspicion of an ADAMTS-13 deficiency. IgG antibodies against ADAMTS-13 were negative, and the protease activity was of 0%.
The activity levels of ADAMTS-13 in both parents were normal. Fresh frozen plasma is given to the girl any time she develops thrombocytopenia, with immediate favorable results. Until now it have been documented three outbreaks of hemolytic anemia, thrombocytopenia, and severe increase in LDH and immeasurable count of ADAMTS-13.
Despite the number of reports about the congenital deficiency of ADAMTS-13 in the literature still growing, in our environment it remains as an underdiagnosed entity. It is necessary to have this disease in mind when we approach a pediatric patient who has a chronic and recurrent thrombocytopenia.

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