1. Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
- Author
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Fernanda Milanezi, Christiane M S Pinto, Viviane Nakano, Cecília Micheletti, Maria Fernanda Soares, Eduardo Perrone, and Luiza do Amaral Virmond
- 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 - 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.
- Published
- 2020
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