PB0178 - Afibrinogenemia – from zero to hundred in 10 days

Background: Afibrinogenemia is a rare bleeding disorder with only 25 patients from India registered in the Annual Global survey 2022. Diagnosis is challenging despite relative ease if availability of screening investigations such as PT and APTT.

Aims: We describe 3 children with afibrinogenemia with a late diagnosis despite a bleeding phenotype who are well subsequently on regular replacement therapy.

Methods: Our center caters to 700 patients with hemophilia A and B and 18 patients of rare bleeding disorders (4 Afibrinogenemia). Out of this, children who presented with a late diagnosis of afibrinogenemia (diagnosed > 5 years of age) were included in this analysis. Clinical presentation, diagnosis and subsequent course of these patients is presented here.

Results: 3children qualified as per inclusion criteria.The age of presentation was 16, 13 and 6 respectively. M:F 2:1. The 16 year old girl presented with menarche associated menorrhagia with repeated transfusions with plasma and packed red cells. Although bleeding disorder was suspected, she was not worked up due to non-availability of testing at earlier centers. The 6 year old boy, who is the brother of the earlier patients presents with repeated joint bleeding. The 13 year old boy was mis-diagnosed as hemophilia B and used to received factor IX concentrates previously. He presented to with history of trauma followed by massive subgaleal hematoma, bilateral orbital hematomas and proptosis with keratomalacia of right eye. Following detection of prolonged PT and APTT, fibrinogen was evaluated and found to be < 10 mg/dl in all 3 children. 2 children with severe phenotype were started on regular prophylaxis with fibrinogen concentrate subsequently. the median follow up is 8 months and both children have had no breakthrough bleeding hence.

Conclusion(s): Rare bleeding disorders need a high index of suspicion for timely diagnosis to prevent mortality and morbidity.