A Quest to Find the Aetiology of Pulmonary Embolism Beyond the Common: A Case of Dyshypofibrinogenemia Presenting as Pulmonary Embolism.
Cureus
; 15(4): e37647, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: covidwho-20242929
ABSTRACT
Hypodysfibrinogenemia-related thromboembolic disorder is a rarely encountered clinical entity. We present such a case of a 34-year-old lady with no known co-morbidities presenting to the accident and emergency unit with left-sided pleuritic chest pain associated with non-productive cough and breathlessness. Laboratory tests revealed fibrinogen level of 0.42 g/l (1.5-4g/l) with prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT) along with elevated d-dimer, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and troponin. CT pulmonary angiogram (CTPA) found bilateral pulmonary embolism with right heart strain. Functional/antigenic fibrinogen ratio was 0.38. Genetic testing eventually revealed a heterozygous missense mutation in exon 8-p.1055G>C; p.Cys352Ser in the sequencing of the fibrinogen gene FGG (gamma chain) confirming the diagnosis of dyshypofibrinogenemia. She was treated with anticoagulants with fibrinogen replacement therapy and later discharged on apixaban.
Texto completo:
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Colección:
Bases de datos internacionales
Base de datos:
MEDLINE
Tipo de estudio:
Reporte de caso
/
Estudio de etiologia
/
Estudio pronóstico
Idioma:
Inglés
Revista:
Cureus
Año:
2023
Tipo del documento:
Artículo
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