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Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime
The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as prot...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SMC Media Srl
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050973/ https://www.ncbi.nlm.nih.gov/pubmed/32133316 http://dx.doi.org/10.12890/2020_001424 |
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author | Soares, Adriana Watts Maia, Maria Santo, João Espirito Costa, Ana Palricas Pereira, Artur Catarino, Cristina |
author_facet | Soares, Adriana Watts Maia, Maria Santo, João Espirito Costa, Ana Palricas Pereira, Artur Catarino, Cristina |
author_sort | Soares, Adriana Watts |
collection | PubMed |
description | The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient’s high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. The patient’s child was also diagnosed with hypofibrinogenaemia, later on confirmed with the pathogenic mutation Fibrinogen Marseilles II. This case was used to conduct a literature review of congenital fibrinogen disorders, rare entities that require more awareness for early diagnosis and accurate management. LEARNING POINTS: Fibrinogen disorders are uncommon causes of either bleeding or thrombotic events and may be acquired or inherited in a recessive or dominant autosomal manner. Congenital fibrinogen deficiencies are rare but should be investigated when undergoing diagnostic work-up for thrombotic or haemorrhagic events in adult years. Determination of molecular defects is important for confirmation and to elaborate a treatment strategy according to the inherent risk for either thrombotic or haemorrhagic events. |
format | Online Article Text |
id | pubmed-7050973 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | SMC Media Srl |
record_format | MEDLINE/PubMed |
spelling | pubmed-70509732020-03-04 Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime Soares, Adriana Watts Maia, Maria Santo, João Espirito Costa, Ana Palricas Pereira, Artur Catarino, Cristina Eur J Case Rep Intern Med Articles The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient’s high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. The patient’s child was also diagnosed with hypofibrinogenaemia, later on confirmed with the pathogenic mutation Fibrinogen Marseilles II. This case was used to conduct a literature review of congenital fibrinogen disorders, rare entities that require more awareness for early diagnosis and accurate management. LEARNING POINTS: Fibrinogen disorders are uncommon causes of either bleeding or thrombotic events and may be acquired or inherited in a recessive or dominant autosomal manner. Congenital fibrinogen deficiencies are rare but should be investigated when undergoing diagnostic work-up for thrombotic or haemorrhagic events in adult years. Determination of molecular defects is important for confirmation and to elaborate a treatment strategy according to the inherent risk for either thrombotic or haemorrhagic events. SMC Media Srl 2020-01-28 /pmc/articles/PMC7050973/ /pubmed/32133316 http://dx.doi.org/10.12890/2020_001424 Text en © EFIM 2020 This article is licensed under a Commons Attribution Non-Commercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) |
spellingShingle | Articles Soares, Adriana Watts Maia, Maria Santo, João Espirito Costa, Ana Palricas Pereira, Artur Catarino, Cristina Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title | Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title_full | Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title_fullStr | Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title_full_unstemmed | Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title_short | Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime |
title_sort | hypofibrinogenaemia: a case of spontaneous bleeding and central venous thrombosis in the same lifetime |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050973/ https://www.ncbi.nlm.nih.gov/pubmed/32133316 http://dx.doi.org/10.12890/2020_001424 |
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