Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort. (14th August 2019)

• Record Type: Journal Article
• Authors: Bouttefroy, Séverine; Meunier, Sandrine; Milien, Vanessa; Boucekine, Mohamed; Chamouni, Pierre; Desprez, Dominique; Harroche, Annie; Hochart, Audrey; Thiercelin-Legrand, Marie Françoise; Wibaut, Bénédicte; Chambost, Hervé; Rugeri, Lucia
• Is Part Of: British journal of haematology. Volume 188:Number 2(2020)
• Page Start: 317
• Page End: 320
• Publication Date: 2019-08-14
• Subjects: factor XIII -- rare bleeding disorder -- registry -- epidemiology -- prophylaxis; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.16133
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: This FranceCoag network study assessed 33 patients with congenital factor XIII (FXIII) deficiency presenting FXIII levels <10 iu/dl. Diagnosis was based on abnormal bleeding in 29 patients, a positive family history in 2, recurrent miscarriages in 1 and was fortuitous in 1. Eighteen patients (62·1%) presented life‐threatening umbilical or intracranial haemorrhages (ICH). Seven of the 15 patients who experienced ICH were diagnosed but untreated, including 3 with secondary neurological sequelae. All pregnancies without prophylaxis (26/26) led to miscarriages versus 3/16 with prophylaxis. In patients exhibiting FXIII levels <10 iu/dl, prophylaxis could be discussed at diagnosis and at pregnancy. Further controlled prospective studies are needed.