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An unusual clinical presentation of factor XIII deficiency and issues relating to the monitoring of factor XIII replacement therapy

2008; Lippincott Williams & Wilkins; Volume: 19; Issue: 5 Linguagem: Inglês

10.1097/mbc.0b013e328300c7ff

1473-5733

Yesim Dargaud, Philippe de Mazancourt, Lucia Rugeri, Michel Hanss, J.Y. Borg, P. Gaucherand, Claude Négrier, Christine Trzeciak,

Hemoglobinopathies and Related Disorders

Congenital factor XIII deficiency is a very rare bleeding disorder. Patients with severe FXIII deficiency usually exhibit severe bleeding diatheses. Factor XIII is also involved in maintaining pregnancy, and women with factor XIII deficiency have a high risk of spontaneous abortions. We report here the case of a patient with a mild bleeding history before her pregnancy but who had three spontaneous haemorrhagic miscarriages. The patient was homozygous for G 501 R mutation of the factor XIII A subunit gene. We also detected a coinherited heterozygous factor V Leiden mutation, probably leading to a milder bleeding tendency. The patient had successful factor XIII replacement therapy throughout her fourth pregnancy. The efficacy of the factor XIII infusions was monitored using thromboelastometry and routine factor XIII measurements. This case report shows that factor XIII deficiency should be ruled out in patients with recurrent fetal loss but with a normal miscarriage workup, even in the absence of a history of severe bleeding since childhood. We also showed that thromboelastometry could be a valuable tool for the monitoring of factor XIII replacement therapy.