Congenital thrombotic thrombocytopenic purpura masquerading as vitamin B12 deficiency
Copyright © 2023. Published by Elsevier Ltd..
INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure.
CASE REPORT: We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay.
CONCLUSION: This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:62 |
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| Enthalten in: |
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 62(2023), 5 vom: 15. Okt., Seite 103728 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nanjiani, Deedar [VerfasserIn] |
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| Links: |
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| Themen: |
ADAMTS13 Protein |
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| Anmerkungen: |
Date Completed 04.12.2023 Date Revised 04.12.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.transci.2023.103728 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM357470052 |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023. Published by Elsevier Ltd. | ||
| 520 | |a INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure | ||
| 520 | |a CASE REPORT: We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay | ||
| 520 | |a CONCLUSION: This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Hemolytic anemia | |
| 650 | 4 | |a Thrombotic thrombocytopenic purpura | |
| 650 | 4 | |a Upshaw Schulman syndrome | |
| 650 | 4 | |a Vitamin B12 deficiency | |
| 650 | 7 | |a ADAMTS13 Protein |2 NLM | |
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| 650 | 7 | |a Vitamin B 12 |2 NLM | |
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| 700 | 1 | |a Sharma, Nitik |e verfasserin |4 aut | |
| 700 | 1 | |a Nasim, Sundus |e verfasserin |4 aut | |
| 700 | 1 | |a Azim, Dua |e verfasserin |4 aut | |
| 700 | 1 | |a Parkash, Oam |e verfasserin |4 aut | |
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