Severe haemorrhages leading to a diagnosis of rare bleeding disorder occur at a very young age: A study from the FranceCoag network.

Autor: Meunier S; Hospices Civils de Lyon- Centre de Référence Hémophilie - Unité d'Hémostase Clinique CHU de Lyon, Bron, France., Harroche A; Service d'Hématologie Clinique Centre de Traitement de l'Hémophilie, Hôpital Necker Enfants Malades, AP-HP, Paris, France., Rauch A; Unité d'Hémostase Clinique et Biologique - Pôle d'Hématologie Transfusion - Institut Cœur Poumon, Lille, France., Bally C; Service d'Hématologie Clinique Centre de Traitement de l'Hémophilie, Hôpital Necker Enfants Malades, AP-HP, Paris, France., Huguenin Y; Centre de Ressources et de Compétences Maladies Hémorragiques Constitutionnelles, Bordeaux, France., Voltzenlogel R; FranceCoag Network, APHM, Marseille, France., Tabélé C; FranceCoag Network, APHM, Marseille, France., Chambost H; Centre de Traitement des Hémophiles, Hôpital Universitaire La Timone, Marseille, France., Balençon M; Service de Pédiatrie, CHU de Caen & Université de Caen Normandie, Caen, France.
Jazyk: angličtina
Zdroj: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2024 Jul; Vol. 30 (4), pp. 981-987. Date of Electronic Publication: 2024 May 13.
DOI: 10.1111/hae.15033
Abstrakt: Introduction: In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse. Yet, little information is available about the frequency of SH in the population of patients with IRBD.
Aim: To collect epidemiologic data about SH and IRBD.
Method: The database of the FranceCoag network has collected information about IRBD since January 2004. Based on data gathered up to 16 March 2022, a retrospective search was conducted for of SH events having occurred before or at the time of IRBD diagnosis. Demographics and diagnosis circumstances were retrieved, as well as information about SH, defined as any life-threatening bleeding or intracranial haemorrhage.
Results: Among the 13,433 patients of the database, 109 (0.8%) fulfilled inclusion criteria including a known date of IRBD diagnosis, haemophilia A or B (HA/HB) being the most frequent (82.5%). IRBD was discovered as a consequence of an SH event in 82.6% of the cases while CNS was involved in 55%. Severe and moderate HA/HB and other severe IRBD presented significantly more intracranial haemorrhage (p < .02) and a lower age at diagnosis (p = .03).
Conclusions: These data support that any unusual SH should raise a suspicion of IRBD. Particularly before 1-year of age, it is suggested to first confirm moderate or severe haemophilia and severe IRBD by standard coagulation tests (APTT, PT and fibrinogen), combined with a clotting FXIII assay as first-line investigation. Subsequent assays of coagulation factors should be performed in the case of abnormal values, in second-line investigation.
(© 2024 The Authors. Haemophilia published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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