Blood cells, molecules & diseases · 2026
Clinical outcomes and health-system challenges in congenital afibrinogenemia: a single-centre prospective case series.
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Radhakrishnan Nita, Singh Savitri, Pandharipande Archit, Baby Eby P, Gaire Hari
Аннотация
BACKGROUND: Congenital afibrinogenemia is a very rare bleeding disorder which is often life threatening. Data are scarce, and only 29 Indian cases have been officially reported to World Federation of Hemophilia, mostly as isolated descriptions. This study presents a prospectively followed pediatric cohort, evaluating clinical characteristics, outcomes with human fibrinogen concentrate (HFC), and health-system challenges.
METHODS: Children diagnosed with afibrinogenemia between 2022 and 2025 at a tertiary centre were prospectively followed. Clinical presentation, diagnostic delay, prior treatments, and outcomes with HFC were analyzed, alongside a structured review of Indian literature and comparison with international data.
RESULTS: Four children (ages 0.25-13 years) constituted 0.36% of the bleeding disorder cohort in our institutional registry (n = 1096). Median diagnostic delay was 8.2 years (range 0.25-12.5). Three were initially misdiagnosed as hemophilia. Major bleeds included recurrent hemarthroses, menorrhagia, and subgaleal/periorbital hematoma. All had Clauss fibrinogen <10 mg/dL. Two children on regular HFC prophylaxis remain bleed-free (median 39.8 months); two on on-demand therapy experience only intermittent bleeds. One developed irreversible blindness before correct diagnosis.
CONCLUSIONS: Afibrinogenemia, though rare, can be catastrophic if unrecognized. Early diagnosis and prophylactic HFC markedly reduce morbidity. Strengthening diagnostic capacity, registry reporting, and equitable HFC access are critical in resource-limited settings.
METHODS: Children diagnosed with afibrinogenemia between 2022 and 2025 at a tertiary centre were prospectively followed. Clinical presentation, diagnostic delay, prior treatments, and outcomes with HFC were analyzed, alongside a structured review of Indian literature and comparison with international data.
RESULTS: Four children (ages 0.25-13 years) constituted 0.36% of the bleeding disorder cohort in our institutional registry (n = 1096). Median diagnostic delay was 8.2 years (range 0.25-12.5). Three were initially misdiagnosed as hemophilia. Major bleeds included recurrent hemarthroses, menorrhagia, and subgaleal/periorbital hematoma. All had Clauss fibrinogen <10 mg/dL. Two children on regular HFC prophylaxis remain bleed-free (median 39.8 months); two on on-demand therapy experience only intermittent bleeds. One developed irreversible blindness before correct diagnosis.
CONCLUSIONS: Afibrinogenemia, though rare, can be catastrophic if unrecognized. Early diagnosis and prophylactic HFC markedly reduce morbidity. Strengthening diagnostic capacity, registry reporting, and equitable HFC access are critical in resource-limited settings.