New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood
We present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild, despite undetectable ADAMTS13 (A Distintegrin an...
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| Format: | Article |
| Jezik: | English |
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Taylor & Francis Group
2020-11-01
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| Serija: | Platelets |
| Teme: | |
| Online dostop: | http://dx.doi.org/10.1080/09537104.2020.1732327 |
| _version_ | 1827816851812384768 |
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| author | Carolyne Elbaz Michelle Sholzberg Hina Hanif Arnaud Bonnefoy Katerina Pavenski |
| author_facet | Carolyne Elbaz Michelle Sholzberg Hina Hanif Arnaud Bonnefoy Katerina Pavenski |
| author_sort | Carolyne Elbaz |
| collection | DOAJ |
| description | We present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild, despite undetectable ADAMTS13 (A Distintegrin and Metalloproteinase with Thrombospondin Motifs 13) activity. Genetic analysis showed a homozygous variant in ADAMTS13 gene which was not previously reported but predicted to be associated with disease. She responded to plasma therapy. Her diagnosis subsequently led to the diagnosis of hTTP in her younger sibling who presented with unexplained strokes a few years earlier. |
| first_indexed | 2024-03-12T00:26:15Z |
| format | Article |
| id | doaj.art-6bb879a77bee44d6a612cf05fbb02910 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:26:15Z |
| publishDate | 2020-11-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-6bb879a77bee44d6a612cf05fbb029102023-09-15T10:38:07ZengTaylor & Francis GroupPlatelets0953-71041369-16352020-11-013181094109610.1080/09537104.2020.17323271732327New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthoodCarolyne Elbaz0Michelle Sholzberg1Hina Hanif2Arnaud Bonnefoy3Katerina Pavenski4University of TorontoToronto and University of Toronto, Toronto; Li Ka Shing Knowledge InstituteSt. Michael’s HospitalUniversity of Montreal, Ste Justine HospitalToronto and University of TorontoWe present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild, despite undetectable ADAMTS13 (A Distintegrin and Metalloproteinase with Thrombospondin Motifs 13) activity. Genetic analysis showed a homozygous variant in ADAMTS13 gene which was not previously reported but predicted to be associated with disease. She responded to plasma therapy. Her diagnosis subsequently led to the diagnosis of hTTP in her younger sibling who presented with unexplained strokes a few years earlier.http://dx.doi.org/10.1080/09537104.2020.1732327congenital thrombotic thrombocytopenic purpuraupshaw-schulman syndromeadamts13 proteaseplasma exchange |
| spellingShingle | Carolyne Elbaz Michelle Sholzberg Hina Hanif Arnaud Bonnefoy Katerina Pavenski New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood Platelets congenital thrombotic thrombocytopenic purpura upshaw-schulman syndrome adamts13 protease plasma exchange |
| title | New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| title_full | New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| title_fullStr | New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| title_full_unstemmed | New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| title_short | New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| title_sort | new mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood |
| topic | congenital thrombotic thrombocytopenic purpura upshaw-schulman syndrome adamts13 protease plasma exchange |
| url | http://dx.doi.org/10.1080/09537104.2020.1732327 |
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