Hereditary hypofibrinogenemia in primary care pediatrics: a case report

Introduction. Hypofibrinogenemia is a rare coagulation disorder characterized by reduced plasma fibrinogen levels and an increased risk of hemorrhagic complications. Inherited forms, caused by mutations in the FGA, FGB, or FGG genes, have an estimated prevalence of 1:500,000 and often remain undiagnosed due to an asymptomatic course.

Aim. To present a rare clinical case of hereditary hypofibrinogenemia with a paucisymptomatic course in a child, in order to address challenges in diagnosis, long-term follow-up, and determining indications for prophylactic therapy to prevent hemorrhagic complications.

Materials and Methods. We report a clinical case of hereditary hypofibrinogenemia in an 8-year-old child. The diagnosis was suspected incidentally during a routine pediatric examination. The diagnosis was subsequently confirmed by a hematologist based on persistently low fibrinogen levels, a positive family history (maternal hereditary hypofibrinogenemia), and genetic testing. Differential diagnosis with acquired forms of hypofibrinogenemia was performed based on clinical and laboratory evaluation, including complete blood count, coagulogram, aggregatogram, biochemical parameters, and instrumental studies.

Results. The key feature of this case was the mild clinical presentation, which included a neonatal cephalohematoma, a single episode of blood in stool, and rare epistaxis. This aligns with literature data on the highly variable phenotypic expressivity of hypofibrinogenemia. The importance of a detailed family history and genetic testing in diagnosing inherited coagulopathies, even in the absence of overt bleeding, is emphasized.

Conclusion. This case highlights the need for physician vigilance regarding inherited coagulation disorders in patients with abnormal coagulation test results, even in the absence of significant clinical symptoms. The development and implementation of strategies for long-term patient monitoring and the prevention of potential hemostasis-related risks are of paramount importance.

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