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<p>To describe the clinical presentation and management of children with congenital afibrinogenemia. Retrospective chart review was performed of children with Congenital Afibrinogenemia from January 2000 to December 2020. Twenty-five children were included. Male: Female ratio was 1.7:1. The median age of onset of symptom was 7.5 months (Range: Day 1 to 10 years). The median age of diagnosis was 1 year (Range: 1 week to 10 years). Consanguinity was present in 12 (48%) and family history of bleeding in five (20%). Eleven (44%) were symptomatic in the neonatal period with umbilical stump bleed. Injection site hematoma, epistaxis, intracranial bleed, muscle hematoma, ecchymosis, retroperitoneal and intra-orbital bleed were the other symptoms at presentation. Two girls had puberty menorrhagia. Seventeen (68%) children are on follow-up with 8(32%) on prophylaxis with no breakthrough bleeding. Congenital Afibrinogenemia present with a varied range of bleeding symptomatology. Prophylaxis is required in a subgroup of children with severe manifestations and is feasible in prevention of severe bleeds.</p>

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The Fibrinogen File: An Experience in Congenital Afibrinogenemia from a Tertiary Centre in South India

  • 期刊论文

  • 发表日期：

    2026年3月17日

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  • Manasa Kakunje,
  • Naveen Kanth Nadakuditi,
  • Somdipa Pal,
  • Jyothi Munireddy,
  • Sidharth Totadri,
  • Vandana Bharadwaj,
  • Sitalakshmi Subramanian,
  • Anand Prakash

摘要

To describe the clinical presentation and management of children with congenital afibrinogenemia. Retrospective chart review was performed of children with Congenital Afibrinogenemia from January 2000 to December 2020. Twenty-five children were included. Male: Female ratio was 1.7:1. The median age of onset of symptom was 7.5 months (Range: Day 1 to 10 years). The median age of diagnosis was 1 year (Range: 1 week to 10 years). Consanguinity was present in 12 (48%) and family history of bleeding in five (20%). Eleven (44%) were symptomatic in the neonatal period with umbilical stump bleed. Injection site hematoma, epistaxis, intracranial bleed, muscle hematoma, ecchymosis, retroperitoneal and intra-orbital bleed were the other symptoms at presentation. Two girls had puberty menorrhagia. Seventeen (68%) children are on follow-up with 8(32%) on prophylaxis with no breakthrough bleeding. Congenital Afibrinogenemia present with a varied range of bleeding symptomatology. Prophylaxis is required in a subgroup of children with severe manifestations and is feasible in prevention of severe bleeds.