Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime

  • Adriana Watts Soares Internal Medicine Department, Hospital Beatriz Ângelo, Loures, Portugal
  • Maria Maia Internal Medicine Department, Hospital Beatriz Ângelo, Loures, Portugal
  • João Espirito Santo Internal Medicine Department, Hospital Beatriz Ângelo, Loures, Portugal
  • Ana Palricas Costa Immunohemotherapy Department, Hospital Santa Maria, Lisbon, Portugal
  • Artur Pereira Immunohemotherapy Department, Hospital Santa Maria, Lisbon, Portugal
  • Cristina Catarino Immunohemotherapy Department, Hospital Santa Maria, Lisbon, Portugal

Keywords

Thrombosis, hypofibrinogenaemia, protein S deficiency, spontaneous bleeding, congenital coagulopathies

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.

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  • Published: 2020-01-28

    Issue: LATEST ONLINE (view)

    Section: Articles

    How to cite:
    Soares, A., Maia, M., Santo, J., Costa, A., Pereira, A., & Catarino, C. (2020). Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime. European Journal of Case Reports in Internal Medicine, 2. https://doi.org/https://doi.org/10.12890/2020_001424