Congenital Afibrinogenemia With Facial Haematoma

TL;DR

A one-year-old boy with a rare blood clotting disorder developed a facial hematoma, highlighting the need for early diagnosis and specialized care.

Contribution

This case emphasizes the importance of multidisciplinary care and awareness for managing rare bleeding disorders like congenital afibrinogenemia.

Findings

The child had a history of bleeding episodes and a facial hematoma due to congenital afibrinogenemia.

Collaboration between haematology and genetic counseling is essential for managing this condition.

Improved diagnostics and therapies are needed, especially in areas with high consanguinity rates.

Abstract

Congenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial haematoma following a fall from a walker. The child had a history of active bleeding during cannulation and had not undergone circumcision due to the risk of bleeding. This case highlights the need for timely diagnosis and appropriate management of rare bleeding disorders such as congenital afibrinogenemia. Collaboration between different specialties, including haematology and genetic counseling, is crucial for comprehensive care. The rarity of the condition underscores the importance of raising awareness among healthcare professionals. Genetic counseling and family studies are essential for assessing genetic implications and guiding decision-making. Further advancements in diagnostic tests and replacement therapy are needed to improve the management of patients with afibrinogenemia, particularly in regions with a high prevalence of consanguineous marriages.

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