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2 results on '"combined deficiency of coagulation factors"'

1. Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients—A Single-Center Experience in Genetic Diagnosis

Author

Bettina Kemkes-Matthes, Heiko Rühl, Atanas Banchev, Ursula Schmitt, Martin Olivieri, Ronald Fischer, Hans-Jürgen Laws, Sule Unal, Barbara Zieger, Barbara Preisler, Johannes Oldenburg, Ute Scholz, Anna Pavlova, Behnaz Pezeshkpoor, and Antje Redlich

Subjects
medicine.medical_specialty, Coagulation Factor Deficiency, combined deficiency of coagulation factors, Population, lcsh:Medicine, 030204 cardiovascular system & hematology, Gastroenterology, Article, genetic testing, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, education, thrombosis, Genetic testing, education.field_of_study, Factor XII, medicine.diagnostic_test, Factor VII, business.industry, lcsh:R, General Medicine, Coagulation, chemistry, Hemostasis, NGS, Cohort, blood coagulation disorders, business, 030215 immunology
Abstract

Background: Familial multiple coagulation factor deficiencies (FMCFDs) are a group of inherited hemostatic disorders with the simultaneous reduction of plasma activity of at least two coagulation factors. As consequence, the type and severity of symptoms and the management of bleeding/thrombotic episodes vary among patients. The aim of this study was to identify the underlying genetic defect in patients with FMCFDs. Methods: Activity levels were collected from the largest cohort of laboratory-diagnosed FMCFD patients described so far. Genetic analysis was performed using next-generation sequencing. Results: In total, 52 FMCFDs resulted from coincidental co-inheritance of single-factor deficiencies. All coagulation factors (except factor XII (FXII)) were involved in different combinations. Factor VII (FVII) deficiency showed the highest prevalence. The second group summarized 21 patients with FMCFDs due to a single-gene defect resulting in combined FV/FVIII deficiency or vitamin K&ndash, dependent coagulation factor deficiency. In the third group, nine patients with a combined deficiency of FVII and FX caused by the partial deletion of chromosome 13 were identified. The majority of patients exhibited bleeding symptoms while thrombotic events were uncommon. Conclusions: FMCFDs are heritable abnormalities of hemostasis with a very low population frequency rendering them orphan diseases. A combination of comprehensive screening of residual activities and molecular genetic analysis could avoid under- and misdiagnosis.

Published
2021

2. Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients—A Single-Center Experience in Genetic Diagnosis.

Author

Preisler, Barbara, Pezeshkpoor, Behnaz, Banchev, Atanas, Fischer, Ronald, Zieger, Barbara, Scholz, Ute, Rühl, Heiko, Kemkes-Matthes, Bettina, Schmitt, Ursula, Redlich, Antje, Unal, Sule, Laws, Hans-Jürgen, Olivieri, Martin, Oldenburg, Johannes, and Pavlova, Anna

Subjects
*BLOOD coagulation factors, *HUMAN chromosome abnormality diagnosis, *VITAMIN deficiency, *NUCLEOTIDE sequencing, *BLOOD coagulation disorders
Abstract

Background: Familial multiple coagulation factor deficiencies (FMCFDs) are a group of inherited hemostatic disorders with the simultaneous reduction of plasma activity of at least two coagulation factors. As consequence, the type and severity of symptoms and the management of bleeding/thrombotic episodes vary among patients. The aim of this study was to identify the underlying genetic defect in patients with FMCFDs. Methods: Activity levels were collected from the largest cohort of laboratory-diagnosed FMCFD patients described so far. Genetic analysis was performed using next-generation sequencing. Results: In total, 52 FMCFDs resulted from coincidental co-inheritance of single-factor deficiencies. All coagulation factors (except factor XII (FXII)) were involved in different combinations. Factor VII (FVII) deficiency showed the highest prevalence. The second group summarized 21 patients with FMCFDs due to a single-gene defect resulting in combined FV/FVIII deficiency or vitamin K–dependent coagulation factor deficiency. In the third group, nine patients with a combined deficiency of FVII and FX caused by the partial deletion of chromosome 13 were identified. The majority of patients exhibited bleeding symptoms while thrombotic events were uncommon. Conclusions: FMCFDs are heritable abnormalities of hemostasis with a very low population frequency rendering them orphan diseases. A combination of comprehensive screening of residual activities and molecular genetic analysis could avoid under- and misdiagnosis. [ABSTRACT FROM AUTHOR]

Published
2021
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