Hypodysfibrinogenemia: a diagnostic challenge

Abstract

Congenital fibrinogen disorders are caused by genetic mutations in the fibrinogen molecule. These result in a qualitative and/or quantitative range of disorders that can demonstrate diverse clinical outcomes for the patient. This presentation of a 41-year-old asymptomatic female gave initially undetectable results for a routine coagulation screen, which in some cases, could have led to potential misdiagnosis. Additional testing in a central laboratory using a range of techniques including light transmittable and electromechanical methods was required to provide accurate fibrinogen determination. Immunological analysis of fibrinogen levels revealed a diagnosis of hypodysfibrinogenemia. This case highlights a diagnostic challenge, especially in regional laboratory setting where often only a single fibrinogen determination method is available. This also demonstrates the role of a central laboratory to support and confirm initial diagnosis by using multiple analysis methods.