Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report

Valter Romão De Souza,Bruna Pontes Duarte,Ana Beatriz Cavalcante De Oliveira,Lívia Netto Chaer,Manuela Freire Hazin Costa,Cláudia Wanderley De Barros Correia,Maria Da Conceição De Barros Correia,Ana Maria Vanderlei,Amanda Queiroz Da Mota Silveira Aroucha,Aureli Nunes Machado

doi:10.1186/s13256-017-1545-3

Abstract

BackgroundThrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease.Case presentationWe present an unusual case of a 20-year-old feoderm woman from northeast region of Brazil who manifested thrombocytopenia during her pregnancy which was believed to be immune thrombocytopenic purpura.ConclusionsConsidering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. It should be considered in suspect cases in patients with an ADAMTS13 activity at 5% without ADAMTS13 antibodies.

Highlights

Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia
Considering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. It should be considered in suspect cases in patients with an ADAMTS13 activity at 5% without ADAMTS13 antibodies
With regard to the importance of a differential diagnosis of thrombotic microangiopathic disorders, we present a case of inherited ADAMTS13 deficiency with initial clinical features that mimicked a recurrent immune thrombocytopenic purpura (ITP)

Summary

Conclusions

Congenital TTP should be included in differential diagnoses. It is essential to determine the ADAMTS13 activity in patients with thrombocytopenia with an unknown etiology. Elucidating the correct and early detection of ADAMTS13 deficiency is relevant for the patient's prognosis, reducing morbidity and mortality. The correct diagnosis allows appropriate treatment, which is an important fact to prevent severe sequels and to avoid useless therapies such as steroid therapy

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