Mild factor XIII deficiency and concurrent hypofibrinogenemia
| Autor: | Claire S. Philipp, Amanda Kaveney |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Heterozygote Pediatrics medicine.medical_specialty Gene Expression 030204 cardiovascular system & hematology Abortion Fibrinogen Asymptomatic Gastroenterology Miscarriage 03 medical and health sciences 0302 clinical medicine Pregnancy Internal medicine Humans Medicine Factor XIII deficiency Menorrhagia reproductive and urinary physiology Factor XIII business.industry Postpartum Hemorrhage Hematology General Medicine Hypofibrinogenemia Afibrinogenemia medicine.disease Factor XIII Deficiency Abortion Spontaneous Mutation Female medicine.symptom business 030215 immunology medicine.drug |
| Zdroj: | Blood Coagulation & Fibrinolysis. 27:457-460 |
| ISSN: | 0957-5235 |
| DOI: | 10.1097/mbc.0000000000000448 |
| Popis: | Factor XIII (FXIII) deficiency is a rare bleeding disorder. Patients with mild congenital FXIII deficiency tend to be asymptomatic, but may demonstrate significant bleeding symptoms with surgery, trauma, and pregnancy. Postpartum hemorrhage has been described in mild FXIII deficiency. We present a case of mild FXIII deficiency and concurrent hypofibrinogenemia manifested by recurrent postpartum hemorrhage, menorrhagia, and miscarriage. Mutational analysis identified a previously unreported heterozygous mutation of the FXIIIA subunit (p.Trp315Arg). No mutation was noted in the fibrinogen gene. FXIII levels decreased approximately 50% from nonpregnant levels to their nadir during labor, whereas fibrinogen levels rose approximately 1.5-fold from decreased nonpregnant levels to their peak at the time of labor. This case illustrates the course of mild FXIII and fibrinogen deficiencies during pregnancy, labor, and postpartum, and raises possible management options for prevention of antepartum and postpartum hemorrhage in women with these deficiencies. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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