Abstract Number: PB1198
Meeting: ISTH 2020 Congress
Background: Congenital afibrinogenemia is an extremely rare disorder (1 / 1,000,000) that generally occurs as an autosomal recessive condition in which the affected individuals are homozygous or compound heterozygous for truncated mutations in the gene encoding the fibrinogen α chain (FGA).
Aims: Report the case of a mexican patient with congenital afibrinogenemia.
Methods: Review of a clinical case and comparison with medical literature
Results: An 11-month-old female patient reported significant diameter ecchymosis at the vaccine application site; 45 days prior to arrival at our hospital, she falls from its support plane with subsequent neurological deterioration, CT scan was performed finding epidural hematoma that required surgical drainage; she is sent to a second level hospital where it is received with data of active bleeding in puncture sites and neurological deterioration data, it was attempted to place central venous access presenting hemothorax that drained 200 ml of fresh blood, presented coagulation times that do not coagulate and improved with the administration of fresh frozen plasma, so they send with reference to our institution for suspected coagulopathy, TP and TTPa that do not coagulate, fibrinogen not detectable, are confirmed, so that fibrinogen quantification is requested which reports < 10 mg / dL and a sample is sent for DNA sequencing, congenital afibrinogenemia is integrated; currently receiving treatment with plasma fibrinogen.
Conclusions: Congenital afibrinogenemia is a rare pathology, which is undoubtedly a diagnostic challenge. Early diagnosis is very important for prevent serious or fatal bleeding. Traditional treatment includes cryoprecipitate transfusion, and is currently treated with prophylactic replacement therapy with plasmatic fibrinogen. The present case is relevant since it is a rare pathology but it should be suspected before a patient with clinical data of coagulopathy with TP and TTPa that do not coagulate.
To cite this abstract in AMA style:Mariano González JF, Moreno González AM. Congenital Afibrinogenemia. Report of a Case in the Children´S Hospital of Mexico Federico Gomez [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/congenital-afibrinogenemia-report-of-a-case-in-the-childrens-hospital-of-mexico-federico-gomez/. Accessed February 21, 2024.
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