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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 |
Sumario: | 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. |
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