Related Experiment Video

Updated: Nov 20, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

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Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience

Barbara Preisler1, Behnaz Pezeshkpoor1, Atanas Banchev2

  • 1Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, 53127 Bonn, Germany.

Journal of Clinical Medicine
|January 22, 2021
PubMed

Insights

Familial multiple coagulation factor deficiencies (FMCFDs) are rare inherited bleeding disorders. Genetic analysis revealed diverse causes, including co-inheritance of deficiencies and single-gene defects, highlighting the need for molecular testing to avoid misdiagnosis.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Familial multiple coagulation factor deficiencies (FMCFDs) are inherited disorders characterized by reduced activity of at least two clotting factors.
  • These conditions lead to variable bleeding or thrombotic symptoms, complicating patient management.
  • Identifying the genetic basis of FMCFDs is crucial for accurate diagnosis and treatment.

Purpose of the Study:

  • To identify the underlying genetic defects in patients diagnosed with familial multiple coagulation factor deficiencies.
  • To characterize the genetic landscape of FMCFDs in a large patient cohort.

Main Methods:

  • Collected activity levels from a large cohort of laboratory-diagnosed FMCFD patients.
  • Performed next-generation sequencing for genetic analysis.

Main Results:

  • Identified 52 FMCFDs arising from co-inheritance of single-factor deficiencies, involving various clotting factors with Factor VII (FVII) deficiency being most prevalent.
  • Discovered 21 FMCFDs due to single-gene defects, including combined Factor V/Factor VIII (FV/FVIII) deficiency and vitamin K-dependent coagulation factor deficiency.
  • Identified nine patients with combined FVII and Factor X (FX) deficiency caused by a partial deletion on chromosome 13.

Conclusions:

  • FMCFDs are rare, heritable hemostasis abnormalities classified as orphan diseases.
  • Comprehensive screening of residual clotting factor activities combined with molecular genetic analysis is essential to prevent under- and misdiagnosis.
  • Accurate genetic diagnosis is key for effective management of these rare bleeding disorders.
Abstract

Keywords:
NGSblood coagulation disorderscombined deficiency of coagulation factorsgenetic testingthrombosis

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