Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding

BMJ Case Rep. 2020 Sep 18;13(9):e235961. doi: 10.1136/bcr-2020-235961.

Abstract

A 26-year-old woman was found to have congenital dysfibrinogenaemia after presenting to our hospital with premature rupture of the membranes and vaginal bleeding. Given the absence of clear guidelines for the management of pregnancy complicated by dysfibrinogenaemia, we followed expert consensus that exists among published works, with some modifications. This case was managed by a multidisciplinary team of obstetrics-gynaecology, haematology and paediatric haematology. Here we review how the patient presented, the investigations that led to the diagnosis and the treatment options.

Keywords: genetics; haematology (incl blood transfusion); malignant and benign haematology; pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Afibrinogenemia / blood
  • Afibrinogenemia / complications
  • Afibrinogenemia / diagnosis*
  • Afibrinogenemia / therapy
  • Antigens / blood*
  • Antigens / immunology
  • Diagnosis, Differential
  • Disseminated Intravascular Coagulation / diagnosis
  • Factor VIII / administration & dosage
  • Female
  • Fetal Membranes, Premature Rupture / blood
  • Fetal Membranes, Premature Rupture / etiology*
  • Fetal Membranes, Premature Rupture / therapy
  • Fibrinogen / administration & dosage
  • Fibrinogen / analysis*
  • Fibrinogen / immunology
  • Hemoglobins / analysis
  • Humans
  • Infusions, Intravenous
  • Leukocyte Count
  • Medical History Taking
  • Multiple Myeloma / diagnosis
  • Partial Thromboplastin Time
  • Pregnancy
  • Prothrombin Time
  • Thrombin Time
  • Treatment Outcome
  • Uterine Hemorrhage / blood
  • Uterine Hemorrhage / etiology*
  • Uterine Hemorrhage / therapy

Substances

  • Antigens
  • Hemoglobins
  • cryoprecipitate coagulum
  • fibrinogen-related antigen
  • Factor VIII
  • Fibrinogen

Supplementary concepts

  • Dysfibrinogenemia, Congenital
  • Preterm Premature Rupture of the Membranes