Soares, Adriana and Maia, Maria and Santo, João and Costa, Ana and Pereira, Artur and Catarino, Cristina (2020) Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime. European Journal of Case Reports in Internal Medicine, 7 (2). ISSN 2284-2594
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Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Thrombosis, hypofibrinogenaemia, protein S deficiency, spontaneous bleeding, congenital coagulopathies |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 19 Nov 2020 10:00 |
| Last Modified: | 19 Nov 2020 10:00 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/19853 |
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