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Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
- Source :
- Blood Coagulation & Fibrinolysis. 31:65-70
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- The objective is to report a patient with congenital afibrinogenemia and vascular abnormalities and also review the clinical and molecular issues. The female proband, diagnosed with congenital afibrinogenemia, was admitted at a hospital due to a hemorrhagic shock. Angiotomography revealed ectasias from ascending branch to the abdominal aorta, with multiple calcifications and atheroma. Clinical exome identified a homozygous novel pathogenic variant in FGG gene. In our review the main symptom, at diagnosis, was umbilical cord bleeding and the degree of clinical involvement varied from asymptomatic to severe. The FGA gene was the most affected and possible hot spots were observed. Variants considered as loss of function were the most frequent. The association of vascular abnormalities in a patient with congenital afibrinogenemia alerts for a closer follow-up of vascular issues in these patients.
- Subjects :
- Proband
Pediatrics
medicine.medical_specialty
business.industry
Abdominal aorta
Hematology
General Medicine
030204 cardiovascular system & hematology
medicine.disease
Asymptomatic
03 medical and health sciences
Congenital afibrinogenemia
0302 clinical medicine
Atheroma
Ectasia
medicine.artery
medicine
medicine.symptom
business
Exome
Loss function
030215 immunology
Subjects
Details
- ISSN :
- 14735733 and 09575235
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Blood Coagulation & Fibrinolysis
- Accession number :
- edsair.doi...........5470a88b29962b27d0e60d71e63014ba
- Full Text :
- https://doi.org/10.1097/mbc.0000000000000867