Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report
Abstract Background Thrombotic 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...
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| Format: | Article |
| Language: | English |
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BMC
2018-01-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1545-3 |
| _version_ | 1828396788807106560 |
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| author | Valter Romão de Souza Ana Beatriz Cavalcante de Oliveira Ana Maria Vanderlei Amanda Queiroz da Mota Silveira Aroucha Bruna Pontes Duarte Aureli Nunes Machado Lívia Netto Chaer Cláudia Wanderley de Barros Correia Maria da Conceição de Barros Correia Manuela Freire Hazin Costa |
| author_facet | Valter Romão de Souza Ana Beatriz Cavalcante de Oliveira Ana Maria Vanderlei Amanda Queiroz da Mota Silveira Aroucha Bruna Pontes Duarte Aureli Nunes Machado Lívia Netto Chaer Cláudia Wanderley de Barros Correia Maria da Conceição de Barros Correia Manuela Freire Hazin Costa |
| author_sort | Valter Romão de Souza |
| collection | DOAJ |
| description | Abstract Background Thrombotic 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 presentation We 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. Conclusions 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. |
| first_indexed | 2024-12-10T08:36:20Z |
| format | Article |
| id | doaj.art-b9f4d7364fec4bd99f52bedc64c078ac |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-10T08:36:20Z |
| publishDate | 2018-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-b9f4d7364fec4bd99f52bedc64c078ac2022-12-22T01:55:58ZengBMCJournal of Medical Case Reports1752-19472018-01-011211610.1186/s13256-017-1545-3Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case reportValter Romão de Souza0Ana Beatriz Cavalcante de Oliveira1Ana Maria Vanderlei2Amanda Queiroz da Mota Silveira Aroucha3Bruna Pontes Duarte4Aureli Nunes Machado5Lívia Netto Chaer6Cláudia Wanderley de Barros Correia7Maria da Conceição de Barros Correia8Manuela Freire Hazin Costa9Department of Internal Medicine, Federal University of PernambucoDepartment of Internal Medicine, Federal University of PernambucoFundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE)Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE)Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE)Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)Liga Acadêmica de Hematologia da Universidade Federal de PernambucoDepartment of Internal Medicine, Federal University of PernambucoDepartment of Internal Medicine, Federal University of PernambucoAbstract Background Thrombotic 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 presentation We 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. Conclusions 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.http://link.springer.com/article/10.1186/s13256-017-1545-3ADAMTS13Congenital thrombotic thrombocytopenic purpuraUpshaw–Schulman syndromePregnancy |
| spellingShingle | Valter Romão de Souza Ana Beatriz Cavalcante de Oliveira Ana Maria Vanderlei Amanda Queiroz da Mota Silveira Aroucha Bruna Pontes Duarte Aureli Nunes Machado Lívia Netto Chaer Cláudia Wanderley de Barros Correia Maria da Conceição de Barros Correia Manuela Freire Hazin Costa Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report Journal of Medical Case Reports ADAMTS13 Congenital thrombotic thrombocytopenic purpura Upshaw–Schulman syndrome Pregnancy |
| title | Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report |
| title_full | Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report |
| title_fullStr | Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report |
| title_full_unstemmed | Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report |
| title_short | Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report |
| title_sort | inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy a case report |
| topic | ADAMTS13 Congenital thrombotic thrombocytopenic purpura Upshaw–Schulman syndrome Pregnancy |
| url | http://link.springer.com/article/10.1186/s13256-017-1545-3 |
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